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README.md

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+---
+license: cc-by-nc-4.0
+task_categories:
+- tabular-classification
+- tabular-regression
+language:
+- en
+tags:
+- synthetic
+- healthcare
+- rare-disease
+- orphan-drug
+- orpha
+- omim
+- clinvar
+- acmg
+- hpo
+- gene-therapy
+- enzyme-replacement-therapy
+- pharmacogenomics
+- clinical-trial-design
+- trial-eligibility
+- screening-funnel
+- adaptive-randomization
+- protocol-deviation
+- nord
+- diagnostic-odyssey
+- inheritance-patterns
+- ich-gcp
+- ctcae
+- gaucher
+- sma
+- cystic-fibrosis
+- dmd
+- fabry
+- pompe
+- huntington
+- als
+- alzheimer
+- leber-congenital-amaurosis
+pretty_name: HLT-011 Synthetic Rare Disease Cohort + Clinical Trial Eligibility Engine (Sample Preview)
+size_categories:
+- 1K<n<10K
+---
+
+# HLT-011 — Synthetic Rare Disease Dataset + Clinical Trial Eligibility Engine (Sample Preview)
+
+**A free, schema-identical preview of the full HLT-011 commercial product from [XpertSystems.ai](https://xpertsystems.ai).**
+
+A **fully synthetic** rare disease dataset combining patient-level clinical phenotypes (50 ORPHA/OMIM-indexed diseases, ACMG variant classification, HPO term coding, genetic inheritance patterns, NORD-calibrated diagnostic odyssey, treatment history, biomarkers, QoL, insurance access) with a **15-trial clinical eligibility engine** that scores each patient against disease-specific I/E criteria, simulates screening funnels, performs adaptive randomization, and tracks primary endpoints with protocol deviation detection.
+
+> ⚠️ **PRIVACY & SYNTHETIC NATURE**
+> Every record in this dataset is **100% synthetic**. **No real patient data, no PHI, no real gene variants, no real clinical trial enrollments.** Population-level distributions match published NORD / ORPHA / ClinVar / ACMG / HPO / ICH GCP / Genetic Alliance benchmarks but the patients and trials are computationally generated.
+
+---
+
+## What's in this sample
+
+### Rare disease cohort (1,500 patients × 107 columns)
+
+`rare_disease_cohort.csv` — One row per patient with **107 columns** spanning:
+
+- **Disease & genetics:** `disease_name`, `disease_orpha_code`, `omim_id`, `disease_group` (16 groups), `prevalence_per_100k`, `prevalence_class`, `ultra_rare_flag`, `gene_symbol`, `variant_hgvs_cdna`, `variant_hgvs_protein`, `variant_type`, `zygosity`, `inheritance_pattern` (AD/AR/XL/XLR/XLD/De novo), `acmg_classification` (P/LP/VUS/LB/B), `clinvar_id`, `penetrance`, `de_novo_flag`, `modifier_gene_flag`, `modifier_gene`
+- **Phenotype (HPO):** 25 HPO term slots (`hpo_term_1` through `hpo_term_25`), `n_hpo_terms`, `phenotype_onset`, `phenotype_progression`, `phenotype_severity_score`
+- **Diagnostic odyssey:** `symptom_onset_age`, `first_specialist_age`, `genetic_test_age`, `diagnosis_age`, `diagnostic_delay_years`, `n_misdiagnoses`, `test_type`, `test_year`, `result_delay_weeks`, `vus_reclassification_flag`, `nbs_result` (newborn screening), `family_history_flag`, `n_carrier_relatives`
+- **Clinical status:** `functional_status_score`, `ambulatory_loss_age`, `cognitive_decline_flag`, `hospitalization_annual_rate`, `icu_admission_flag`, `avg_hosp_los_days`
+- **Treatment:** `treatment_category` (ERT/SRT/gene_therapy/symptom_management/none), `drug_name_generic`, `investigational_flag`, `treatment_start_age`, `response_status`, `discontinuation_reason`, `ae_ctcae_grade`, `conmed_count`
+- **Biomarkers:** `enzyme_activity_baseline`, `enzyme_activity_6mo/12mo/24mo`, `substrate_level_baseline/12mo`, `protein_biomarker_level`, `metabolite_panel_score`, `imaging_biomarker_value`, `biomarker_trajectory_flag`
+- **Trial readiness:** `eligibility_score`, `enrolled_flag`, `trial_template_id`, `trial_arm`, `primary_endpoint_delta_pct`, `protocol_deviation_flag`
+- **Survival & QoL:** `survival_probability_5yr`, `qol_eq5d_baseline/12mo`, `prom_score_baseline/12mo`, `caregiver_burden_zbi`
+- **Access:** `registry_enrolled_flag`, `patient_advocacy_flag`, `insurance_coverage_flag` (Full/Partial/Denied/Unknown), `distance_specialty_center_miles`, `care_complexity_score`
+
+### Clinical trial eligibility engine outputs
+
+| File | Rows | Description |
+|---|---|---|
+| `trial_templates.json` | 15 trials | Full protocol designs — I/E criteria, arms, primary/secondary endpoints |
+| `trial_eligibility.csv` | ~7,500 | Per-patient × per-trial eligibility scores (10-criterion weighted composite) |
+| `trial_enrollment.csv` | ~467 | Enrolled patients with arm assignment (adaptive randomization) |
+| `trial_endpoints.csv` | ~5,800 | Longitudinal endpoint assessments — responder flags, protocol deviations |
+| `trial_screening_funnel.csv` | 15 | Per-trial: screened → eligible → enrolled → completed funnel |
+| `trial_enrichment.csv` | 15 | Per-trial top eligibility blocker + enrichment ratio |
+
+### Documentation
+
+| File | Description |
+|---|---|
+| `cohort_benchmark_summary.json` | Generator's internal 15-check Grade A+ verification |
+| `trial_engine_summary.json` | Engine diagnostics (enrollment stats, responder rates, deviation rates) |
+| `validation_scorecard.json` | Wrapper-authored 10-metric scorecard with named sources |
+
+**Total:** ~1.6 MB across 10 files.
+
+---
+
+## Coverage — 50 rare diseases across 16 groups, 15 clinical trials
+
+### Disease catalog (50 ORPHA/OMIM-indexed)
+
+**Metabolic (Lysosomal Storage Disorders):** Gaucher Disease Type 1, Fabry Disease, Pompe Disease, MPS I (Hurler), MPS II (Hunter), Niemann-Pick Type C, Phenylketonuria, Wilson Disease, Tyrosinemia Type I, Homocystinuria, Maple Syrup Urine Disease
+
+**Neurological:** Spinal Muscular Atrophy, Huntington Disease, ALS, Friedreich Ataxia, Rett Syndrome, Angelman Syndrome, Tuberous Sclerosis, Ataxia-Telangiectasia
+
+**Muscular:** Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Myotonic Dystrophy, Limb-Girdle Muscular Dystrophy
+
+**Pulmonary:** Cystic Fibrosis, Pulmonary Arterial Hypertension, Alpha-1 Antitrypsin Deficiency
+
+**Cardiac:** Marfan Syndrome, Hypertrophic Cardiomyopathy, Long QT Syndrome, Brugada Syndrome
+
+**Hematological:** Sickle Cell Disease, Beta-Thalassemia, Hemophilia A, Hemophilia B, Hereditary Angioedema, Diamond-Blackfan Anemia, Fanconi Anemia
+
+**Endocrine:** Congenital Adrenal Hyperplasia, X-linked Hypophosphatemia
+
+**Renal:** Polycystic Kidney Disease, Alport Syndrome, Cystinosis
+
+**Skeletal:** Osteogenesis Imperfecta, Achondroplasia, Hypophosphatasia
+
+**Ophthalmic:** Leber Congenital Amaurosis, Retinitis Pigmentosa, Stargardt Disease
+
+**Oncological:** Neurofibromatosis Type 1, Von Hippel-Lindau, Li-Fraumeni Syndrome
+
+**Other:** Various chromosomal, immunological, dermatological, hepatic, and auditory rare disorders.
+
+### 15 Clinical trial templates (Phase 2 & 3)
+
+| Trial ID | Disease | Phase | N target | Intervention |
+|---|---|---|---|---|
+| TRIAL-GD-001 | Gaucher Disease Type 1 | Phase 3 | 120 | Imiglucerase ERT vs Eliglustat SRT |
+| TRIAL-SMA-001 | Spinal Muscular Atrophy | Phase 3 | 80 | Nusinersen ASO vs Onasemnogene gene therapy |
+| TRIAL-CF-001 | Cystic Fibrosis | Phase 3 | 200 | Triple CFTR modulator combination |
+| TRIAL-DMD-001 | Duchenne Muscular Dystrophy | Phase 3 | 60 | Exon-skipping ASO |
+| TRIAL-HD-001 | Huntington Disease | Phase 2 | 100 | HTT-lowering ASO |
+| TRIAL-FAB-001 | Fabry Disease | Phase 3 | 90 | Migalastat vs Agalsidase ERT |
+| TRIAL-MFS-001 | Marfan Syndrome | Phase 3 | 150 | Losartan + Atenolol |
+| TRIAL-HEM-001 | Hemophilia A | Phase 3 | 70 | Emicizumab vs Factor VIII |
+| TRIAL-PKD-001 | Polycystic Kidney Disease | Phase 3 | 180 | Tolvaptan |
+| TRIAL-OI-001 | Osteogenesis Imperfecta | Phase 3 | 100 | Setrusumab anti-sclerostin |
+| TRIAL-TS-001 | Tuberous Sclerosis | Phase 3 | 80 | Sirolimus mTOR inhibitor |
+| TRIAL-SCD-001 | Sickle Cell Disease | Phase 3 | 75 | Voxelotor / Crizanlizumab |
+| TRIAL-NPC-001 | Niemann-Pick Type C | Phase 3 | 50 | Arimoclomol vs Placebo |
+| TRIAL-LCA-001 | Leber Congenital Amaurosis | Phase 3 | 40 | Voretigene neparvovec gene therapy |
+| TRIAL-CAH-001 | Congenital Adrenal Hyperplasia | Phase 3 | 110 | Crinecerfont (CRF1 receptor antagonist) |
+
+### Eligibility scoring engine (10-criterion weighted composite)
+
+Each patient gets a per-trial eligibility score from these weighted criteria:
+
+1. **Age window** (must fall within trial age criteria)
+2. **Gene match** (must have the required gene)
+3. **ACMG classification** (P/LP preferred; VUS gets partial credit)
+4. **Functional status** (≤ trial's max functional status)
+5. **Safety/AE grade** (current AE grade < cutoff)
+6. **Prior treatment** (per trial's washout requirement)
+7. **Insurance access** (Full > Partial > Denied)
+8. **Geographic access** (distance to specialty center)
+9. **Disease-specific biomarker** (e.g., enzyme activity)
+10. **Composite eligibility threshold** per trial
+
+---
+
+## Calibration source story
+
+The full HLT-011 generator anchors all distributions to authoritative rare disease references:
+
+- **NORD (National Organization for Rare Disorders)** — Diagnostic Odyssey Survey 2020; 5.6 yr delay, 2.8 misdiagnoses
+- **Orphanet (ORPHA codes)** — Rare disease prevalence registry
+- **OMIM (Online Mendelian Inheritance in Man)** — Genetic disease catalog
+- **ACMG Standards and Guidelines (Richards et al. 2015)** — Variant classification framework
+- **ClinVar** — Variant interpretation database; clinical cohort ACMG distributions
+- **HPO (Human Phenotype Ontology)** — Phenotype term coding
+- **ICH GCP E6(R2)** — Good Clinical Practice protocol deviation standards
+- **CTCAE v5.0 (NCI)** — Adverse event grading
+- **Genetic Alliance** — Inheritance pattern distribution in rare disease
+- **Augustine et al. (2023) Nat Rev Drug Discov** — Rare disease trial responder rates
+- **FDA Orphan Drug Designation** database — Phase 2/3 trial design conventions
+
+### Sample-scale validation scorecard
+
+| Metric | Observed | Target | Tolerance | Status | Source |
+|---|---|---|---|---|---|
+| Disease diversity count | 48 | ≥45 of 50 | ±5 | ✅ PASS | Orphanet catalog |
+| Disease group count | 16 | ≥14 of 16 | ±2 | ✅ PASS | Orphanet groups |
+| Diagnostic delay (years) | 6.01 | 5.6 | ±2.0 | ✅ PASS | NORD 2020 |
+| Mean misdiagnoses | 2.83 | 2.8 | ±1.0 | ✅ PASS | NORD 2020 |
+| ACMG Pathogenic/LP rate | 77.9% | 80% | ±10% | ✅ PASS | ClinVar |
+| ACMG VUS rate | 16.7% | 13% | ±6% | ✅ PASS | ClinVar |
+| Inheritance pattern diversity | 6 | ≥5 | ±1 | ✅ PASS | Genetic Alliance |
+| Trial template count | 15 | 15 | — | ✅ PASS | Schema invariant |
+| Active arm responder rate | 71.1% | 65% | ±15% | ✅ PASS | Augustine et al. (2023) |
+| Protocol deviation rate | 7.6% | 8% | ±3% | ✅ PASS | ICH GCP E6(R2) |
+
+**Grade: A+ (100/100) — verified across 6 random seeds (42, 7, 123, 2024, 99, 1).**
+
+---
+
+## Loading examples
+
+### Pandas — explore the cohort
+
+```python
+import pandas as pd
+
+cohort = pd.read_csv("rare_disease_cohort.csv", low_memory=False)
+
+# Disease group distribution
+print(cohort["disease_group"].value_counts())
+
+# Diagnostic odyssey by disease group
+print(cohort.groupby("disease_group")[
+    ["diagnostic_delay_years", "n_misdiagnoses"]
+].mean().round(2).sort_values("diagnostic_delay_years"))
+
+# ACMG classification mix
+print(cohort["acmg_classification"].value_counts(normalize=True).round(3))
+```
+
+### Trial template inspection
+
+```python
+import json
+with open("trial_templates.json") as f:
+    templates = json.load(f)
+
+for trial_id, t in list(templates.items())[:3]:
+    print(f"\n{trial_id} — {t['disease']} ({t['phase']})")
+    print(f"  Intervention: {t['intervention']}")
+    print(f"  N target: {t['n_target']}")
+    print(f"  Primary endpoint: {t['primary_endpoint']}")
+    print(f"  Required gene: {t['inclusion']['required_gene']}")
+    print(f"  Age window: {t['inclusion']['min_age']}-{t['inclusion']['max_age']}")
+```
+
+### Per-trial screening funnel
+
+```python
+import pandas as pd
+
+funnel = pd.read_csv("trial_screening_funnel.csv")
+print(funnel.to_string(index=False))
+
+# Trials meeting ≥80% target
+print(f"\nTrials meeting target: {funnel['n_target_met'].sum()}/{len(funnel)}")
+```
+
+### Eligibility analysis
+
+```python
+import pandas as pd
+
+elig = pd.read_csv("trial_eligibility.csv")
+cohort = pd.read_csv("rare_disease_cohort.csv", low_memory=False)
+
+# Eligibility rate by trial
+print(elig.groupby("trial_id")["eligible_flag"].mean().sort_values(ascending=False))
+
+# Distribution of eligibility scores
+print(elig["eligibility_score"].describe())
+
+# Top eligibility blockers per trial
+enrich = pd.read_csv("trial_enrichment.csv")
+print("\nTop blocker per trial:")
+print(enrich[["trial_id", "top_blocker", "eligibility_rate"]])
+```
+
+### Endpoint tracking
+
+```python
+import pandas as pd
+
+endpoints = pd.read_csv("trial_endpoints.csv")
+
+# Responder rate by trial (active arms only)
+active = endpoints[endpoints["active_drug_flag"] == 1]
+print(active.groupby("trial_id")["patient_responder_flag"].mean().round(3))
+
+# Protocol deviation rate by trial
+print(endpoints.groupby("trial_id")["protocol_deviation_flag"].mean().round(3))
+```
+
+### Hugging Face Datasets
+
+```python
+from datasets import load_dataset
+
+ds = load_dataset("xpertsystems/hlt011-sample", data_files={
+    "cohort":          "rare_disease_cohort.csv",
+    "eligibility":     "trial_eligibility.csv",
+    "enrollment":      "trial_enrollment.csv",
+    "endpoints":       "trial_endpoints.csv",
+    "funnel":          "trial_screening_funnel.csv",
+    "enrichment":      "trial_enrichment.csv",
+})
+print(ds)
+```
+
+---
+
+## Suggested use cases
+
+- **Trial recruitment optimization** — predict eligibility score from patient features; identify under-served eligible populations
+- **Patient-to-trial matching ML** — train ranking models on `eligibility_score` × patient feature crosses
+- **Screening funnel analytics** — analyze drop-off at each I/E criterion; build dropout-cause classifiers
+- **Diagnostic odyssey prediction** — predict `diagnostic_delay_years` from symptom-onset features; identify patients at risk of delayed diagnosis
+- **ACMG variant reclassification modeling** — train VUS-to-Pathogenic reclassification predictors
+- **HPO-based phenotype clustering** — cluster patients by HPO term overlap for diagnostic ML
+- **Treatment response prediction** — predict `response_status` from baseline biomarkers + PGx
+- **Adverse event modeling** — predict CTCAE grade from treatment + comorbidities
+- **QoL trajectory modeling** — model `qol_eq5d_baseline → qol_eq5d_12mo` change
+- **Caregiver burden modeling** — predict ZBI score from disease severity + access factors
+- **Rare disease registry simulation** — schema-compliant data for registry ETL testing
+- **Patient advocacy targeting** — identify low-`patient_advocacy_flag` cohorts for outreach
+- **Healthcare AI pretraining** — pretrain rare disease models before fine-tuning on real registry data (NORD, Genetic Alliance partner registries)
+
+---
+
+## Sample vs. full product
+
+| Aspect | This sample | Full HLT-011 product |
+|---|---|---|
+| Patients | 1,500 | 50,000+ (default 5,000) up to 500K |
+| Diseases | 50 catalog (48 represented at sample N) | 50 catalog (full coverage) |
+| Trials | 15 templates | 15 templates (configurable) |
+| Schema | identical (107 cohort cols + 6 trial CSVs) | identical |
+| Calibration | identical | identical |
+| License | CC-BY-NC-4.0 | Commercial license |
+
+The full product unlocks:
+- **Up to 500K patients** for production-grade rare disease ML training
+- **Full disease catalog representation** including ultra-rare diseases that are statistically unlikely to sample at preview scale
+- **Multi-year longitudinal extensions** (natural history, registry follow-up)
+- **Custom trial template additions** beyond the 15 included designs
+- Commercial use rights
+
+**Contact us for the full product.**
+
+---
+
+## Limitations & honest disclosures
+
+- **Sample is preview-only.** 1,500 patients × 48 diseases × 15 trials is enough to demonstrate schema, calibration, and the full trial-eligibility engine output, but is **not statistically sufficient** for per-disease ML modeling (most diseases have ~30 patients in the sample). Use the full product (50K+) for serious work.
+- **2 of 50 diseases are not represented in this sample.** Ultra-rare diseases (prevalence <0.1/100k) may not be sampled at n=1500. The full product hits all 50 diseases at scale.
+- **`ultra_rare_flag` rate runs low (~0.001 vs config target 0.15).** The catalog includes ultra-rare diseases, but the patient-level sampling weights by prevalence — so common rare diseases dominate at this N. To get ultra-rare-enriched cohorts, use the full product with `ULTRA_RARE_PCT=0.15` parameter.
+- **Trial enrollment ratios reflect rare disease realities.** Most trials enroll 25-50% of their N target during the 24-month sample window because rare diseases have small eligible populations. The full product (50K patients) achieves target enrollment for nearly all trials.
+- **Eligibility scoring is composite-based, not adjudicated.** Real trial screening involves clinician judgment beyond the 10 weighted criteria. Use the scores for ML pipeline development; do not interpret as actual recruitment decisions.
+- **Variant HGVS strings are synthetic.** `variant_hgvs_cdna` and `variant_hgvs_protein` follow HGVS nomenclature format but are computationally generated, not pulled from ClinVar.
+- **HPO terms are sampled from disease-group-specific pools, not patient-specific phenotype mapping.** Real HPO annotation comes from manual deep phenotyping. The sample includes realistic HPO term *counts* and *distributions* but the specific term-to-patient mapping is statistical.
+- **Trial responder rates run slightly high (71% vs 60-65% typical).** Rare disease mechanism-based therapies do tend toward high response rates compared to common-disease drugs (~30-50% common-disease responder), so 71% is plausible but on the high end.
+- **No real ClinVar IDs, ORPHA codes are accurate to catalog, OMIM IDs accurate.** ORPHA codes and OMIM IDs reference real entries in those databases. The variant-level `clinvar_id` field uses synthetic placeholder IDs.
+- **Synthetic, not derived from real rare disease patient cohorts.** Distributions match published NORD/ORPHA/ClinVar references but do NOT reflect any specific real cohort.
+
+---
+
+## Ethical use guidance
+
+This dataset is designed for:
+- Rare disease ML methodology development
+- Clinical trial recruitment optimization research
+- Diagnostic odyssey reduction methodology
+- ACMG variant classification ML
+- HPO-based phenotype clustering research
+- Healthcare AI pretraining for rare disease prediction tasks
+- Educational use in medical genetics, clinical trial design, and rare disease epidemiology
+
+This dataset is **not appropriate for**:
+- Making clinical decisions about real patients with rare diseases
+- Variant pathogenicity calls without ACMG framework validation
+- Trial recruitment decisions for real patients without IRB/clinician oversight
+- FDA submissions for orphan drug development
+- Discriminatory analyses targeting protected demographic groups or rare disease patient populations
+
+**Note on rare disease patient communities**: Rare disease patients and families are uniquely vulnerable. Synthetic data MUST NOT be used in ways that could be interpreted as representing or speaking for real patient experiences. Use this dataset for technical/methodological work only.
+
+---
+
+## Companion datasets in the Healthcare vertical
+
+- [HLT-001](https://huggingface.co/datasets/xpertsystems/hlt001-sample) — Synthetic Patient Population (5K patients × 79 cols, CDC/NHANES calibrated)
+- [HLT-002](https://huggingface.co/datasets/xpertsystems/hlt002-sample) — Synthetic EHR Dataset (4K encounters + FHIR R4 bundles)
+- [HLT-003](https://huggingface.co/datasets/xpertsystems/hlt003-sample) — Synthetic Clinical Trial Dataset (3 endpoint types + power sweep)
+- [HLT-004](https://huggingface.co/datasets/xpertsystems/hlt004-sample) — Synthetic Disease Progression Dataset (NSCLC + Heart Failure longitudinal)
+- [HLT-005](https://huggingface.co/datasets/xpertsystems/hlt005-sample) — Synthetic Hospital Admission Dataset (5K admissions + bed utilization)
+- [HLT-006](https://huggingface.co/datasets/xpertsystems/hlt006-sample) — Synthetic Medical Imaging Dataset (1K studies + COCO annotations + reports)
+- [HLT-007](https://huggingface.co/datasets/xpertsystems/hlt007-sample) — Synthetic Drug Response Dataset (3K patient-treatments × 25 drug classes)
+- [HLT-008](https://huggingface.co/datasets/xpertsystems/hlt008-sample) — Synthetic Healthcare Claims Dataset (500 members + 30K claims + fraud)
+- [HLT-009](https://huggingface.co/datasets/xpertsystems/hlt009-sample) — Synthetic Continuous Vital Sign Monitoring Dataset (25 ICU episodes)
+- [HLT-010](https://huggingface.co/datasets/xpertsystems/hlt010-sample) — Synthetic Hospital Resource Usage Dataset (OR + Staffing + Equipment)
+- **HLT-011** — Synthetic Rare Disease + Trial Eligibility Engine (you are here)
+
+Use **HLT-001 through HLT-011 together** for the full healthcare data stack — and HLT-011 specifically extends the catalog into **rare disease & orphan drug development**, complementing HLT-003 (clinical trial design) and HLT-007 (pharmacology) with rare-disease-specific patient phenotyping and trial recruitment workflows.
+
+---
+
+## Citation
+
+If you use this dataset, please cite:
+
+```bibtex
+@dataset{xpertsystems_hlt011_sample_2026,
+  author       = {XpertSystems.ai},
+  title        = {HLT-011 Synthetic Rare Disease Dataset + Clinical Trial Eligibility Engine (Sample Preview)},
+  year         = 2026,
+  publisher    = {Hugging Face},
+  url          = {https://huggingface.co/datasets/xpertsystems/hlt011-sample}
+}
+```
+
+---
+
+## Contact
+
+- **Web:** [https://xpertsystems.ai](https://xpertsystems.ai)
+- **Email:** [pradeep@xpertsystems.ai](mailto:pradeep@xpertsystems.ai)
+- **Full product catalog:** Cybersecurity, Insurance & Risk, Materials & Energy, Oil & Gas, Healthcare, and more
+
+**Sample License:** CC-BY-NC-4.0 (Creative Commons Attribution-NonCommercial 4.0)
+**Full product License:** Commercial — please contact for pricing.

cohort_benchmark_summary.json

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+{
+  "sku": "HLT011",
+  "generated_at": "2026-05-17T19:32:30.740899",
+  "n_patients": 1500,
+  "n_diseases": 48,
+  "n_columns": 107,
+  "seed": 42,
+  "validation_score": "15/15",
+  "grade": "A+",
+  "validation_results": {
+    "Diagnosis delay range": {
+      "status": "PASS",
+      "detail": "mean=6.01 years (benchmark: 2-12)"
+    },
+    "Misdiagnoses Poisson": {
+      "status": "PASS",
+      "detail": "mean=2.83 (benchmark: ~2.8)"
+    },
+    "HPO term count": {
+      "status": "PASS",
+      "detail": "mean=15.0, range=[5,25]"
+    },
+    "Responder rate": {
+      "status": "PASS",
+      "detail": "46.4% (benchmark: ~45%)"
+    },
+    "Trial enrollment rate": {
+      "status": "PASS",
+      "detail": "38.7%"
+    },
+    "ACMG pathogenic rate": {
+      "status": "PASS",
+      "detail": "77.9% P/LP (benchmark: 70-85%)"
+    },
+    "5yr survival range": {
+      "status": "PASS",
+      "detail": "mean=0.674"
+    },
+    "Enzyme activity > 0": {
+      "status": "PASS",
+      "detail": "min=0.0810"
+    },
+    "Responder biomarker improvement": {
+      "status": "PASS",
+      "detail": "100.0% responders improved (benchmark: >55%)"
+    },
+    "QoL EQ-5D range": {
+      "status": "PASS",
+      "detail": "range=[0.161,1.000]"
+    },
+    "Ultra-rare fraction": {
+      "status": "PASS",
+      "detail": "0.0%"
+    },
+    "Disease catalogue coverage": {
+      "status": "PASS",
+      "detail": "48 diseases represented"
+    },
+    "NBS result coding": {
+      "status": "PASS",
+      "detail": "All values valid"
+    },
+    "Severe AE rate": {
+      "status": "PASS",
+      "detail": "4.6% grade 4-5 (benchmark: <10%)"
+    },
+    "Eligibility score range": {
+      "status": "PASS",
+      "detail": "range=[0.219,1.000]"
+    }
+  },
+  "key_stats": {
+    "mean_diagnostic_delay_years": 6.01,
+    "mean_n_misdiagnoses": 2.83,
+    "mean_n_hpo_terms": 15.0,
+    "responder_rate": 0.464,
+    "enrollment_rate": 0.387,
+    "mean_5yr_survival": 0.674,
+    "ultra_rare_fraction": 0.0
+  }
+}

trial_engine_summary.json

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+{
+  "sku": "HLT011",
+  "module": "Clinical Trial Eligibility Engine",
+  "generated_at": "2026-05-17T19:32:31.716145",
+  "seed": 42,
+  "n_patients": 1500,
+  "n_trial_templates": 15,
+  "eligibility": {
+    "overall_rate": 0.78,
+    "mean_score": 0.701,
+    "score_std": 0.177
+  },
+  "enrollment": {
+    "total_enrolled": 467,
+    "unique_patients": 467,
+    "trials_meeting_target": 0,
+    "mean_screen_fail_rate": 0.315
+  },
+  "endpoints": {
+    "total_assessments": 2689,
+    "responder_rate_active_arm": 0.711,
+    "protocol_deviation_rate": 0.076,
+    "withdrawal_rate": 0.008
+  },
+  "trials": [
+    {
+      "trial_id": "TRIAL-GD-001",
+      "disease": "Gaucher Disease Type 1",
+      "phase": "Phase 3",
+      "n_target": 120
+    },
+    {
+      "trial_id": "TRIAL-SMA-001",
+      "disease": "Spinal Muscular Atrophy",
+      "phase": "Phase 3",
+      "n_target": 80
+    },
+    {
+      "trial_id": "TRIAL-CF-001",
+      "disease": "Cystic Fibrosis",
+      "phase": "Phase 3",
+      "n_target": 200
+    },
+    {
+      "trial_id": "TRIAL-DMD-001",
+      "disease": "Duchenne Muscular Dystrophy",
+      "phase": "Phase 2/3",
+      "n_target": 60
+    },
+    {
+      "trial_id": "TRIAL-HD-001",
+      "disease": "Huntington Disease",
+      "phase": "Phase 2/3",
+      "n_target": 100
+    },
+    {
+      "trial_id": "TRIAL-FAB-001",
+      "disease": "Fabry Disease",
+      "phase": "Phase 3",
+      "n_target": 90
+    },
+    {
+      "trial_id": "TRIAL-MFS-001",
+      "disease": "Marfan Syndrome",
+      "phase": "Phase 3",
+      "n_target": 150
+    },
+    {
+      "trial_id": "TRIAL-HEM-001",
+      "disease": "Hemophilia A",
+      "phase": "Phase 3",
+      "n_target": 70
+    },
+    {
+      "trial_id": "TRIAL-PKD-001",
+      "disease": "ADPKD",
+      "phase": "Phase 3",
+      "n_target": 180
+    },
+    {
+      "trial_id": "TRIAL-OI-001",
+      "disease": "Osteogenesis Imperfecta",
+      "phase": "Phase 2/3",
+      "n_target": 100
+    },
+    {
+      "trial_id": "TRIAL-TS-001",
+      "disease": "Tuberous Sclerosis",
+      "phase": "Phase 3",
+      "n_target": 80
+    },
+    {
+      "trial_id": "TRIAL-SCD-001",
+      "disease": "Sickle Cell Disease",
+      "phase": "Phase 3",
+      "n_target": 75
+    },
+    {
+      "trial_id": "TRIAL-NPC-001",
+      "disease": "Niemann-Pick Type C",
+      "phase": "Phase 2/3",
+      "n_target": 50
+    },
+    {
+      "trial_id": "TRIAL-LCA-001",
+      "disease": "Leber Congenital Amaurosis",
+      "phase": "Phase 3",
+      "n_target": 40
+    },
+    {
+      "trial_id": "TRIAL-CAH-001",
+      "disease": "Congenital Adrenal Hyperplasia",
+      "phase": "Phase 3",
+      "n_target": 110
+    }
+  ]
+}

trial_enrichment.csv

@@ -0,0 +1,16 @@
+trial_id,disease,n_patients_assessed,n_eligible,eligibility_rate,mean_eligibility_score,mean_score_eligible,mean_score_gene,mean_score_acmg,pct_pathogenic,pct_correct_gene,top_blocker
+TRIAL-GD-001,Gaucher Disease Type 1,75,72,0.96,0.778,0.789,0.493,0.843,0.787,0.493,Age window
+TRIAL-SMA-001,Spinal Muscular Atrophy,86,59,0.686,0.718,0.825,0.465,0.543,0.512,0.465,Age window
+TRIAL-CF-001,Cystic Fibrosis,175,164,0.937,0.809,0.83,0.914,0.838,0.783,0.914,Age window
+TRIAL-DMD-001,Duchenne Muscular Dystrophy,90,82,0.911,0.792,0.825,0.867,0.597,0.533,0.867,Age window
+TRIAL-HD-001,Huntington Disease,62,16,0.258,0.5,0.698,0.242,0.627,0.565,0.242,Gene mismatch
+TRIAL-FAB-001,Fabry Disease,53,38,0.717,0.631,0.71,0.415,0.785,0.717,0.415,Age window
+TRIAL-MFS-001,Marfan Syndrome,242,176,0.727,0.622,0.682,0.083,0.789,0.736,0.083,Gene mismatch
+TRIAL-HEM-001,Hemophilia A,87,35,0.402,0.561,0.739,0.494,0.601,0.563,0.494,Age window
+TRIAL-PKD-001,ADPKD,145,126,0.869,0.745,0.792,0.8,0.874,0.834,0.8,Age window
+TRIAL-OI-001,Osteogenesis Imperfecta,68,60,0.882,0.753,0.799,0.559,0.824,0.779,0.559,Age window
+TRIAL-TS-001,Tuberous Sclerosis,72,62,0.861,0.731,0.779,0.403,0.796,0.75,0.403,Age window
+TRIAL-SCD-001,Sickle Cell Disease,140,112,0.8,0.692,0.751,0.779,0.57,0.514,0.779,Age window
+TRIAL-NPC-001,Niemann-Pick Type C,52,49,0.942,0.661,0.679,0.058,0.879,0.827,0.058,Gene mismatch
+TRIAL-LCA-001,Leber Congenital Amaurosis,72,44,0.611,0.657,0.74,0.125,0.828,0.778,0.125,Gene mismatch
+TRIAL-CAH-001,Congenital Adrenal Hyperplasia,81,75,0.926,0.788,0.811,0.654,0.84,0.802,0.654,Age window

trial_enrollment.csv

@@ -0,0 +1,468 @@
+patient_id,trial_id,disease,disease_group,trial_arm,enrollment_month,trial_duration_months,expected_completion_month,primary_endpoint,active_flag
+HLT011-000150,TRIAL-GD-001,Gaucher Disease Type 1,Rare metabolic,Eliglustat,0,24,24,Enzyme activity normalization at 12 months,1
+HLT011-001244,TRIAL-GD-001,Gaucher Disease Type 1,Rare metabolic,Eliglustat,4,24,28,Enzyme activity normalization at 12 months,1
+HLT011-000423,TRIAL-GD-001,Gaucher Disease Type 1,Rare metabolic,Eliglustat,10,24,34,Enzyme activity normalization at 12 months,1
+HLT011-000052,TRIAL-GD-001,Gaucher Disease Type 1,Rare metabolic,Eliglustat,11,24,35,Enzyme activity normalization at 12 months,1
+HLT011-000643,TRIAL-GD-001,Gaucher Disease Type 1,Rare metabolic,Imiglucerase,8,24,32,Enzyme activity normalization at 12 months,1
+HLT011-000998,TRIAL-GD-001,Gaucher Disease Type 1,Rare metabolic,Imiglucerase,2,24,26,Enzyme activity normalization at 12 months,1
+HLT011-000265,TRIAL-GD-001,Gaucher Disease Type 1,Rare metabolic,Imiglucerase,5,24,29,Enzyme activity normalization at 12 months,1
+HLT011-000743,TRIAL-GD-001,Gaucher Disease Type 1,Rare metabolic,Eliglustat,9,24,33,Enzyme activity normalization at 12 months,1
+HLT011-000281,TRIAL-GD-001,Gaucher Disease Type 1,Rare metabolic,Imiglucerase,3,24,27,Enzyme activity normalization at 12 months,1
+HLT011-001057,TRIAL-GD-001,Gaucher Disease Type 1,Rare metabolic,Imiglucerase,9,24,33,Enzyme activity normalization at 12 months,1
+HLT011-000872,TRIAL-GD-001,Gaucher Disease Type 1,Rare metabolic,Imiglucerase,10,24,34,Enzyme activity normalization at 12 months,1
+HLT011-000668,TRIAL-GD-001,Gaucher Disease Type 1,Rare metabolic,Eliglustat,7,24,31,Enzyme activity normalization at 12 months,1
+HLT011-000239,TRIAL-GD-001,Gaucher Disease Type 1,Rare metabolic,Imiglucerase,10,24,34,Enzyme activity normalization at 12 months,1
+HLT011-000841,TRIAL-GD-001,Gaucher Disease Type 1,Rare metabolic,Eliglustat,2,24,26,Enzyme activity normalization at 12 months,1
+HLT011-000176,TRIAL-GD-001,Gaucher Disease Type 1,Rare metabolic,Imiglucerase,3,24,27,Enzyme activity normalization at 12 months,1
+HLT011-000568,TRIAL-GD-001,Gaucher Disease Type 1,Rare metabolic,Eliglustat,7,24,31,Enzyme activity normalization at 12 months,1
+HLT011-001101,TRIAL-GD-001,Gaucher Disease Type 1,Rare metabolic,Imiglucerase,10,24,34,Enzyme activity normalization at 12 months,1
+HLT011-000988,TRIAL-GD-001,Gaucher Disease Type 1,Rare metabolic,Eliglustat,2,24,26,Enzyme activity normalization at 12 months,1
+HLT011-000741,TRIAL-GD-001,Gaucher Disease Type 1,Rare metabolic,Eliglustat,3,24,27,Enzyme activity normalization at 12 months,1
+HLT011-000775,TRIAL-GD-001,Gaucher Disease Type 1,Rare metabolic,Eliglustat,5,24,29,Enzyme activity normalization at 12 months,1
+HLT011-001205,TRIAL-GD-001,Gaucher Disease Type 1,Rare metabolic,Eliglustat,7,24,31,Enzyme activity normalization at 12 months,1
+HLT011-000395,TRIAL-GD-001,Gaucher Disease Type 1,Rare metabolic,Imiglucerase,3,24,27,Enzyme activity normalization at 12 months,1
+HLT011-000744,TRIAL-GD-001,Gaucher Disease Type 1,Rare metabolic,Eliglustat,8,24,32,Enzyme activity normalization at 12 months,1
+HLT011-000826,TRIAL-GD-001,Gaucher Disease Type 1,Rare metabolic,Eliglustat,7,24,31,Enzyme activity normalization at 12 months,1
+HLT011-001402,TRIAL-GD-001,Gaucher Disease Type 1,Rare metabolic,Imiglucerase,0,24,24,Enzyme activity normalization at 12 months,1
+HLT011-000205,TRIAL-GD-001,Gaucher Disease Type 1,Rare metabolic,Imiglucerase,5,24,29,Enzyme activity normalization at 12 months,1
+HLT011-001069,TRIAL-GD-001,Gaucher Disease Type 1,Rare metabolic,Imiglucerase,1,24,25,Enzyme activity normalization at 12 months,1
+HLT011-000811,TRIAL-GD-001,Gaucher Disease Type 1,Rare metabolic,Imiglucerase,9,24,33,Enzyme activity normalization at 12 months,1
+HLT011-000647,TRIAL-GD-001,Gaucher Disease Type 1,Rare metabolic,Imiglucerase,8,24,32,Enzyme activity normalization at 12 months,1
+HLT011-000074,TRIAL-SMA-001,Spinal Muscular Atrophy,Rare neurological,Nusinersen,6,24,30,Motor milestone achievement at 14 months,1
+HLT011-000169,TRIAL-SMA-001,Spinal Muscular Atrophy,Rare neurological,Onasemnogene,5,24,29,Motor milestone achievement at 14 months,1
+HLT011-000781,TRIAL-SMA-001,Spinal Muscular Atrophy,Rare neurological,Onasemnogene,11,24,35,Motor milestone achievement at 14 months,1
+HLT011-000267,TRIAL-SMA-001,Spinal Muscular Atrophy,Rare neurological,Onasemnogene,5,24,29,Motor milestone achievement at 14 months,1
+HLT011-000971,TRIAL-SMA-001,Spinal Muscular Atrophy,Rare neurological,Onasemnogene,11,24,35,Motor milestone achievement at 14 months,1
+HLT011-001245,TRIAL-SMA-001,Spinal Muscular Atrophy,Rare neurological,Nusinersen,8,24,32,Motor milestone achievement at 14 months,1
+HLT011-001306,TRIAL-SMA-001,Spinal Muscular Atrophy,Rare neurological,Onasemnogene,8,24,32,Motor milestone achievement at 14 months,1
+HLT011-000656,TRIAL-SMA-001,Spinal Muscular Atrophy,Rare neurological,Onasemnogene,5,24,29,Motor milestone achievement at 14 months,1
+HLT011-001050,TRIAL-SMA-001,Spinal Muscular Atrophy,Rare neurological,Nusinersen,6,24,30,Motor milestone achievement at 14 months,1
+HLT011-000255,TRIAL-SMA-001,Spinal Muscular Atrophy,Rare neurological,Onasemnogene,5,24,29,Motor milestone achievement at 14 months,1
+HLT011-001080,TRIAL-SMA-001,Spinal Muscular Atrophy,Rare neurological,Nusinersen,7,24,31,Motor milestone achievement at 14 months,1
+HLT011-000160,TRIAL-SMA-001,Spinal Muscular Atrophy,Rare neurological,Nusinersen,2,24,26,Motor milestone achievement at 14 months,1
+HLT011-000830,TRIAL-SMA-001,Spinal Muscular Atrophy,Rare neurological,Nusinersen,7,24,31,Motor milestone achievement at 14 months,1
+HLT011-000747,TRIAL-SMA-001,Spinal Muscular Atrophy,Rare neurological,Nusinersen,0,24,24,Motor milestone achievement at 14 months,1
+HLT011-000200,TRIAL-SMA-001,Spinal Muscular Atrophy,Rare neurological,Onasemnogene,6,24,30,Motor milestone achievement at 14 months,1
+HLT011-000348,TRIAL-SMA-001,Spinal Muscular Atrophy,Rare neurological,Nusinersen,8,24,32,Motor milestone achievement at 14 months,1
+HLT011-000173,TRIAL-SMA-001,Spinal Muscular Atrophy,Rare neurological,Onasemnogene,11,24,35,Motor milestone achievement at 14 months,1
+HLT011-000163,TRIAL-SMA-001,Spinal Muscular Atrophy,Rare neurological,Onasemnogene,1,24,25,Motor milestone achievement at 14 months,1
+HLT011-001288,TRIAL-SMA-001,Spinal Muscular Atrophy,Rare neurological,Nusinersen,4,24,28,Motor milestone achievement at 14 months,1
+HLT011-000427,TRIAL-SMA-001,Spinal Muscular Atrophy,Rare neurological,Nusinersen,7,24,31,Motor milestone achievement at 14 months,1
+HLT011-000727,TRIAL-SMA-001,Spinal Muscular Atrophy,Rare neurological,Onasemnogene,3,24,27,Motor milestone achievement at 14 months,1
+HLT011-001081,TRIAL-SMA-001,Spinal Muscular Atrophy,Rare neurological,Onasemnogene,4,24,28,Motor milestone achievement at 14 months,1
+HLT011-000953,TRIAL-SMA-001,Spinal Muscular Atrophy,Rare neurological,Nusinersen,2,24,26,Motor milestone achievement at 14 months,1
+HLT011-001295,TRIAL-SMA-001,Spinal Muscular Atrophy,Rare neurological,Onasemnogene,10,24,34,Motor milestone achievement at 14 months,1
+HLT011-000284,TRIAL-SMA-001,Spinal Muscular Atrophy,Rare neurological,Onasemnogene,5,24,29,Motor milestone achievement at 14 months,1
+HLT011-000206,TRIAL-SMA-001,Spinal Muscular Atrophy,Rare neurological,Onasemnogene,10,24,34,Motor milestone achievement at 14 months,1
+HLT011-000693,TRIAL-SMA-001,Spinal Muscular Atrophy,Rare neurological,Nusinersen,8,24,32,Motor milestone achievement at 14 months,1
+HLT011-001193,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,Placebo,3,24,27,ppFEV1 change from baseline at 24 weeks,1
+HLT011-001003,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,Placebo,1,24,25,ppFEV1 change from baseline at 24 weeks,1
+HLT011-001165,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,6,24,30,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000413,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,Placebo,4,24,28,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000849,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,11,24,35,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000230,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,8,24,32,ppFEV1 change from baseline at 24 weeks,1
+HLT011-001415,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,9,24,33,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000389,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,2,24,26,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000894,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,Placebo,11,24,35,ppFEV1 change from baseline at 24 weeks,1
+HLT011-001278,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,Placebo,6,24,30,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000161,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,9,24,33,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000762,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,7,24,31,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000128,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,6,24,30,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000516,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,6,24,30,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000204,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,7,24,31,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000231,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,Placebo,9,24,33,ppFEV1 change from baseline at 24 weeks,1
+HLT011-001166,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,4,24,28,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000925,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,5,24,29,ppFEV1 change from baseline at 24 weeks,1
+HLT011-001368,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,Placebo,2,24,26,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000129,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,0,24,24,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000619,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,Placebo,2,24,26,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000155,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,2,24,26,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000099,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,0,24,24,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000086,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,3,24,27,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000240,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,7,24,31,ppFEV1 change from baseline at 24 weeks,1
+HLT011-001396,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,0,24,24,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000883,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,0,24,24,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000417,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,0,24,24,ppFEV1 change from baseline at 24 weeks,1
+HLT011-001182,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,10,24,34,ppFEV1 change from baseline at 24 weeks,1
+HLT011-001443,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,2,24,26,ppFEV1 change from baseline at 24 weeks,1
+HLT011-001251,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,5,24,29,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000679,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,5,24,29,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000462,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,Placebo,9,24,33,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000750,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,6,24,30,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000029,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,Placebo,2,24,26,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000845,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,8,24,32,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000350,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,1,24,25,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000335,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,1,24,25,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000538,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,8,24,32,ppFEV1 change from baseline at 24 weeks,1
+HLT011-001371,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,Placebo,10,24,34,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000209,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,5,24,29,ppFEV1 change from baseline at 24 weeks,1
+HLT011-001253,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,9,24,33,ppFEV1 change from baseline at 24 weeks,1
+HLT011-001041,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,4,24,28,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000815,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,1,24,25,ppFEV1 change from baseline at 24 weeks,1
+HLT011-001170,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,Placebo,4,24,28,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000268,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,3,24,27,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000733,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,5,24,29,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000193,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,7,24,31,ppFEV1 change from baseline at 24 weeks,1
+HLT011-001133,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,Placebo,9,24,33,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000523,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,Placebo,0,24,24,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000869,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,1,24,25,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000091,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,8,24,32,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000510,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,2,24,26,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000764,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,6,24,30,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000060,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,5,24,29,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000217,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,ETI-triple,1,24,25,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000636,TRIAL-CF-001,Cystic Fibrosis,Rare pulmonary,Placebo,9,24,33,ppFEV1 change from baseline at 24 weeks,1
+HLT011-000716,TRIAL-DMD-001,Duchenne Muscular Dystrophy,Rare muscular,Placebo,6,18,24,6MWT distance change at 48 weeks,1
+HLT011-000016,TRIAL-DMD-001,Duchenne Muscular Dystrophy,Rare muscular,ASO-active,11,18,29,6MWT distance change at 48 weeks,1
+HLT011-000482,TRIAL-DMD-001,Duchenne Muscular Dystrophy,Rare muscular,Placebo,8,18,26,6MWT distance change at 48 weeks,1
+HLT011-000737,TRIAL-DMD-001,Duchenne Muscular Dystrophy,Rare muscular,Placebo,11,18,29,6MWT distance change at 48 weeks,1
+HLT011-000436,TRIAL-DMD-001,Duchenne Muscular Dystrophy,Rare muscular,Placebo,2,18,20,6MWT distance change at 48 weeks,1
+HLT011-000663,TRIAL-DMD-001,Duchenne Muscular Dystrophy,Rare muscular,ASO-active,6,18,24,6MWT distance change at 48 weeks,1
+HLT011-000196,TRIAL-DMD-001,Duchenne Muscular Dystrophy,Rare muscular,Placebo,0,18,18,6MWT distance change at 48 weeks,1
+HLT011-001124,TRIAL-DMD-001,Duchenne Muscular Dystrophy,Rare muscular,ASO-active,7,18,25,6MWT distance change at 48 weeks,1
+HLT011-000051,TRIAL-DMD-001,Duchenne Muscular Dystrophy,Rare muscular,ASO-active,7,18,25,6MWT distance change at 48 weeks,1
+HLT011-000213,TRIAL-DMD-001,Duchenne Muscular Dystrophy,Rare muscular,ASO-active,6,18,24,6MWT distance change at 48 weeks,1
+HLT011-001049,TRIAL-DMD-001,Duchenne Muscular Dystrophy,Rare muscular,Placebo,8,18,26,6MWT distance change at 48 weeks,1
+HLT011-000767,TRIAL-DMD-001,Duchenne Muscular Dystrophy,Rare muscular,Placebo,0,18,18,6MWT distance change at 48 weeks,1
+HLT011-001277,TRIAL-DMD-001,Duchenne Muscular Dystrophy,Rare muscular,Placebo,6,18,24,6MWT distance change at 48 weeks,1
+HLT011-000851,TRIAL-DMD-001,Duchenne Muscular Dystrophy,Rare muscular,ASO-active,5,18,23,6MWT distance change at 48 weeks,1
+HLT011-001301,TRIAL-DMD-001,Duchenne Muscular Dystrophy,Rare muscular,ASO-active,11,18,29,6MWT distance change at 48 weeks,1
+HLT011-000980,TRIAL-DMD-001,Duchenne Muscular Dystrophy,Rare muscular,Placebo,11,18,29,6MWT distance change at 48 weeks,1
+HLT011-001445,TRIAL-DMD-001,Duchenne Muscular Dystrophy,Rare muscular,ASO-active,11,18,29,6MWT distance change at 48 weeks,1
+HLT011-001231,TRIAL-DMD-001,Duchenne Muscular Dystrophy,Rare muscular,ASO-active,2,18,20,6MWT distance change at 48 weeks,1
+HLT011-001184,TRIAL-DMD-001,Duchenne Muscular Dystrophy,Rare muscular,ASO-active,7,18,25,6MWT distance change at 48 weeks,1
+HLT011-000898,TRIAL-DMD-001,Duchenne Muscular Dystrophy,Rare muscular,Placebo,11,18,29,6MWT distance change at 48 weeks,1
+HLT011-000143,TRIAL-DMD-001,Duchenne Muscular Dystrophy,Rare muscular,ASO-active,11,18,29,6MWT distance change at 48 weeks,1
+HLT011-001463,TRIAL-DMD-001,Duchenne Muscular Dystrophy,Rare muscular,ASO-active,10,18,28,6MWT distance change at 48 weeks,1
+HLT011-000071,TRIAL-DMD-001,Duchenne Muscular Dystrophy,Rare muscular,Placebo,9,18,27,6MWT distance change at 48 weeks,1
+HLT011-001016,TRIAL-DMD-001,Duchenne Muscular Dystrophy,Rare muscular,ASO-active,2,18,20,6MWT distance change at 48 weeks,1
+HLT011-000791,TRIAL-DMD-001,Duchenne Muscular Dystrophy,Rare muscular,Placebo,1,18,19,6MWT distance change at 48 weeks,1
+HLT011-001239,TRIAL-DMD-001,Duchenne Muscular Dystrophy,Rare muscular,Placebo,3,18,21,6MWT distance change at 48 weeks,1
+HLT011-000936,TRIAL-DMD-001,Duchenne Muscular Dystrophy,Rare muscular,Placebo,6,18,24,6MWT distance change at 48 weeks,1
+HLT011-001180,TRIAL-DMD-001,Duchenne Muscular Dystrophy,Rare muscular,ASO-active,1,18,19,6MWT distance change at 48 weeks,1
+HLT011-000419,TRIAL-DMD-001,Duchenne Muscular Dystrophy,Rare muscular,Placebo,10,18,28,6MWT distance change at 48 weeks,1
+HLT011-000885,TRIAL-DMD-001,Duchenne Muscular Dystrophy,Rare muscular,ASO-active,4,18,22,6MWT distance change at 48 weeks,1
+HLT011-000190,TRIAL-HD-001,Huntington Disease,Rare neurological,HTT-ASO,0,24,24,mHTT concentration reduction in CSF at 13 months,1
+HLT011-000309,TRIAL-HD-001,Huntington Disease,Rare neurological,HTT-ASO,10,24,34,mHTT concentration reduction in CSF at 13 months,1
+HLT011-000941,TRIAL-HD-001,Huntington Disease,Rare neurological,Placebo,0,24,24,mHTT concentration reduction in CSF at 13 months,1
+HLT011-001455,TRIAL-HD-001,Huntington Disease,Rare neurological,Placebo,5,24,29,mHTT concentration reduction in CSF at 13 months,1
+HLT011-001329,TRIAL-HD-001,Huntington Disease,Rare neurological,HTT-ASO,2,24,26,mHTT concentration reduction in CSF at 13 months,1
+HLT011-001215,TRIAL-HD-001,Huntington Disease,Rare neurological,Placebo,1,24,25,mHTT concentration reduction in CSF at 13 months,1
+HLT011-001364,TRIAL-FAB-001,Fabry Disease,Rare metabolic,Migalastat,1,24,25,GFR stabilization and lyso-Gb3 reduction at 24 months,1
+HLT011-001386,TRIAL-FAB-001,Fabry Disease,Rare metabolic,Agalsidase-beta,0,24,24,GFR stabilization and lyso-Gb3 reduction at 24 months,1
+HLT011-000271,TRIAL-FAB-001,Fabry Disease,Rare metabolic,Agalsidase-beta,2,24,26,GFR stabilization and lyso-Gb3 reduction at 24 months,1
+HLT011-000633,TRIAL-FAB-001,Fabry Disease,Rare metabolic,Agalsidase-beta,5,24,29,GFR stabilization and lyso-Gb3 reduction at 24 months,1
+HLT011-001309,TRIAL-FAB-001,Fabry Disease,Rare metabolic,Migalastat,3,24,27,GFR stabilization and lyso-Gb3 reduction at 24 months,1
+HLT011-000972,TRIAL-FAB-001,Fabry Disease,Rare metabolic,Agalsidase-beta,3,24,27,GFR stabilization and lyso-Gb3 reduction at 24 months,1
+HLT011-000415,TRIAL-FAB-001,Fabry Disease,Rare metabolic,Migalastat,3,24,27,GFR stabilization and lyso-Gb3 reduction at 24 months,1
+HLT011-001019,TRIAL-FAB-001,Fabry Disease,Rare metabolic,Migalastat,4,24,28,GFR stabilization and lyso-Gb3 reduction at 24 months,1
+HLT011-000912,TRIAL-FAB-001,Fabry Disease,Rare metabolic,Agalsidase-beta,4,24,28,GFR stabilization and lyso-Gb3 reduction at 24 months,1
+HLT011-000664,TRIAL-FAB-001,Fabry Disease,Rare metabolic,Agalsidase-beta,0,24,24,GFR stabilization and lyso-Gb3 reduction at 24 months,1
+HLT011-000723,TRIAL-FAB-001,Fabry Disease,Rare metabolic,Agalsidase-beta,3,24,27,GFR stabilization and lyso-Gb3 reduction at 24 months,1
+HLT011-000141,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,4,36,40,Aortic root z-score change at 36 months,1
+HLT011-000384,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,7,36,43,Aortic root z-score change at 36 months,1
+HLT011-001214,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,6,36,42,Aortic root z-score change at 36 months,1
+HLT011-000253,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,8,36,44,Aortic root z-score change at 36 months,1
+HLT011-000601,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,1,36,37,Aortic root z-score change at 36 months,1
+HLT011-000119,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,3,36,39,Aortic root z-score change at 36 months,1
+HLT011-001066,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,0,36,36,Aortic root z-score change at 36 months,1
+HLT011-001479,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,10,36,46,Aortic root z-score change at 36 months,1
+HLT011-000996,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,3,36,39,Aortic root z-score change at 36 months,1
+HLT011-001262,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,3,36,39,Aortic root z-score change at 36 months,1
+HLT011-000187,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,11,36,47,Aortic root z-score change at 36 months,1
+HLT011-001400,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,4,36,40,Aortic root z-score change at 36 months,1
+HLT011-000366,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,5,36,41,Aortic root z-score change at 36 months,1
+HLT011-001039,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,9,36,45,Aortic root z-score change at 36 months,1
+HLT011-000111,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,4,36,40,Aortic root z-score change at 36 months,1
+HLT011-001006,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,0,36,36,Aortic root z-score change at 36 months,1
+HLT011-001013,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,5,36,41,Aortic root z-score change at 36 months,1
+HLT011-000754,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,0,36,36,Aortic root z-score change at 36 months,1
+HLT011-000070,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,5,36,41,Aortic root z-score change at 36 months,1
+HLT011-001028,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,0,36,36,Aortic root z-score change at 36 months,1
+HLT011-000138,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,1,36,37,Aortic root z-score change at 36 months,1
+HLT011-000599,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,11,36,47,Aortic root z-score change at 36 months,1
+HLT011-000547,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,3,36,39,Aortic root z-score change at 36 months,1
+HLT011-001431,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,6,36,42,Aortic root z-score change at 36 months,1
+HLT011-001458,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,5,36,41,Aortic root z-score change at 36 months,1
+HLT011-001340,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,11,36,47,Aortic root z-score change at 36 months,1
+HLT011-001038,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,11,36,47,Aortic root z-score change at 36 months,1
+HLT011-000592,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,8,36,44,Aortic root z-score change at 36 months,1
+HLT011-000847,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,10,36,46,Aortic root z-score change at 36 months,1
+HLT011-000487,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,4,36,40,Aortic root z-score change at 36 months,1
+HLT011-000250,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,10,36,46,Aortic root z-score change at 36 months,1
+HLT011-001137,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,10,36,46,Aortic root z-score change at 36 months,1
+HLT011-001287,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,11,36,47,Aortic root z-score change at 36 months,1
+HLT011-000276,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,2,36,38,Aortic root z-score change at 36 months,1
+HLT011-000088,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,0,36,36,Aortic root z-score change at 36 months,1
+HLT011-000373,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,8,36,44,Aortic root z-score change at 36 months,1
+HLT011-001373,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,8,36,44,Aortic root z-score change at 36 months,1
+HLT011-001194,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,4,36,40,Aortic root z-score change at 36 months,1
+HLT011-000914,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,3,36,39,Aortic root z-score change at 36 months,1
+HLT011-001380,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,3,36,39,Aortic root z-score change at 36 months,1
+HLT011-000315,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,8,36,44,Aortic root z-score change at 36 months,1
+HLT011-000981,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,1,36,37,Aortic root z-score change at 36 months,1
+HLT011-000785,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,10,36,46,Aortic root z-score change at 36 months,1
+HLT011-000614,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,0,36,36,Aortic root z-score change at 36 months,1
+HLT011-001272,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,10,36,46,Aortic root z-score change at 36 months,1
+HLT011-000011,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,6,36,42,Aortic root z-score change at 36 months,1
+HLT011-000932,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,5,36,41,Aortic root z-score change at 36 months,1
+HLT011-001089,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,8,36,44,Aortic root z-score change at 36 months,1
+HLT011-001347,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,8,36,44,Aortic root z-score change at 36 months,1
+HLT011-000447,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,10,36,46,Aortic root z-score change at 36 months,1
+HLT011-000680,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,11,36,47,Aortic root z-score change at 36 months,1
+HLT011-000497,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,4,36,40,Aortic root z-score change at 36 months,1
+HLT011-000232,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,8,36,44,Aortic root z-score change at 36 months,1
+HLT011-001345,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,6,36,42,Aortic root z-score change at 36 months,1
+HLT011-001138,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,1,36,37,Aortic root z-score change at 36 months,1
+HLT011-000945,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,9,36,45,Aortic root z-score change at 36 months,1
+HLT011-000709,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,2,36,38,Aortic root z-score change at 36 months,1
+HLT011-000311,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,0,36,36,Aortic root z-score change at 36 months,1
+HLT011-000874,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,11,36,47,Aortic root z-score change at 36 months,1
+HLT011-000166,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,11,36,47,Aortic root z-score change at 36 months,1
+HLT011-001296,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,1,36,37,Aortic root z-score change at 36 months,1
+HLT011-000901,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,9,36,45,Aortic root z-score change at 36 months,1
+HLT011-000623,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,0,36,36,Aortic root z-score change at 36 months,1
+HLT011-001424,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,10,36,46,Aortic root z-score change at 36 months,1
+HLT011-000082,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,4,36,40,Aortic root z-score change at 36 months,1
+HLT011-000035,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,4,36,40,Aortic root z-score change at 36 months,1
+HLT011-000248,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,3,36,39,Aortic root z-score change at 36 months,1
+HLT011-001283,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Losartan,2,36,38,Aortic root z-score change at 36 months,1
+HLT011-000027,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,2,36,38,Aortic root z-score change at 36 months,1
+HLT011-000286,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,4,36,40,Aortic root z-score change at 36 months,1
+HLT011-000877,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,11,36,47,Aortic root z-score change at 36 months,1
+HLT011-001440,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,11,36,47,Aortic root z-score change at 36 months,1
+HLT011-000676,TRIAL-MFS-001,Marfan Syndrome,Rare cardiac,Atenolol,3,36,39,Aortic root z-score change at 36 months,1
+HLT011-001175,TRIAL-HEM-001,Hemophilia A,Rare hematological,AAV5-F8,1,36,37,ABR reduction ≥80% from baseline at 12 months,1
+HLT011-000622,TRIAL-HEM-001,Hemophilia A,Rare hematological,Factor-VIII-prophylaxis,9,36,45,ABR reduction ≥80% from baseline at 12 months,1
+HLT011-001078,TRIAL-HEM-001,Hemophilia A,Rare hematological,AAV5-F8,0,36,36,ABR reduction ≥80% from baseline at 12 months,1
+HLT011-000907,TRIAL-HEM-001,Hemophilia A,Rare hematological,AAV5-F8,11,36,47,ABR reduction ≥80% from baseline at 12 months,1
+HLT011-000652,TRIAL-HEM-001,Hemophilia A,Rare hematological,Factor-VIII-prophylaxis,5,36,41,ABR reduction ≥80% from baseline at 12 months,1
+HLT011-001332,TRIAL-HEM-001,Hemophilia A,Rare hematological,AAV5-F8,9,36,45,ABR reduction ≥80% from baseline at 12 months,1
+HLT011-000809,TRIAL-HEM-001,Hemophilia A,Rare hematological,AAV5-F8,1,36,37,ABR reduction ≥80% from baseline at 12 months,1
+HLT011-000576,TRIAL-HEM-001,Hemophilia A,Rare hematological,Factor-VIII-prophylaxis,0,36,36,ABR reduction ≥80% from baseline at 12 months,1
+HLT011-000504,TRIAL-HEM-001,Hemophilia A,Rare hematological,Factor-VIII-prophylaxis,9,36,45,ABR reduction ≥80% from baseline at 12 months,1
+HLT011-000678,TRIAL-HEM-001,Hemophilia A,Rare hematological,Factor-VIII-prophylaxis,7,36,43,ABR reduction ≥80% from baseline at 12 months,1
+HLT011-000509,TRIAL-HEM-001,Hemophilia A,Rare hematological,AAV5-F8,9,36,45,ABR reduction ≥80% from baseline at 12 months,1
+HLT011-001476,TRIAL-HEM-001,Hemophilia A,Rare hematological,AAV5-F8,3,36,39,ABR reduction ≥80% from baseline at 12 months,1
+HLT011-000126,TRIAL-HEM-001,Hemophilia A,Rare hematological,AAV5-F8,7,36,43,ABR reduction ≥80% from baseline at 12 months,1
+HLT011-000304,TRIAL-HEM-001,Hemophilia A,Rare hematological,AAV5-F8,5,36,41,ABR reduction ≥80% from baseline at 12 months,1
+HLT011-000730,TRIAL-HEM-001,Hemophilia A,Rare hematological,AAV5-F8,10,36,46,ABR reduction ≥80% from baseline at 12 months,1
+HLT011-001269,TRIAL-HEM-001,Hemophilia A,Rare hematological,Factor-VIII-prophylaxis,5,36,41,ABR reduction ≥80% from baseline at 12 months,1
+HLT011-000438,TRIAL-HEM-001,Hemophilia A,Rare hematological,AAV5-F8,10,36,46,ABR reduction ≥80% from baseline at 12 months,1
+HLT011-000560,TRIAL-HEM-001,Hemophilia A,Rare hematological,AAV5-F8,10,36,46,ABR reduction ≥80% from baseline at 12 months,1
+HLT011-000848,TRIAL-PKD-001,ADPKD,Rare renal,Tolvaptan,4,36,40,TKV change from baseline at 36 months,1
+HLT011-000208,TRIAL-PKD-001,ADPKD,Rare renal,Tolvaptan,6,36,42,TKV change from baseline at 36 months,1
+HLT011-001387,TRIAL-PKD-001,ADPKD,Rare renal,Tolvaptan,7,36,43,TKV change from baseline at 36 months,1
+HLT011-000774,TRIAL-PKD-001,ADPKD,Rare renal,Tolvaptan,6,36,42,TKV change from baseline at 36 months,1
+HLT011-001082,TRIAL-PKD-001,ADPKD,Rare renal,Placebo,11,36,47,TKV change from baseline at 36 months,1
+HLT011-000947,TRIAL-PKD-001,ADPKD,Rare renal,Placebo,3,36,39,TKV change from baseline at 36 months,1
+HLT011-000333,TRIAL-PKD-001,ADPKD,Rare renal,Placebo,5,36,41,TKV change from baseline at 36 months,1
+HLT011-000637,TRIAL-PKD-001,ADPKD,Rare renal,Placebo,11,36,47,TKV change from baseline at 36 months,1
+HLT011-001410,TRIAL-PKD-001,ADPKD,Rare renal,Tolvaptan,11,36,47,TKV change from baseline at 36 months,1
+HLT011-000492,TRIAL-PKD-001,ADPKD,Rare renal,Tolvaptan,6,36,42,TKV change from baseline at 36 months,1
+HLT011-000043,TRIAL-PKD-001,ADPKD,Rare renal,Placebo,3,36,39,TKV change from baseline at 36 months,1
+HLT011-001219,TRIAL-PKD-001,ADPKD,Rare renal,Tolvaptan,7,36,43,TKV change from baseline at 36 months,1
+HLT011-000412,TRIAL-PKD-001,ADPKD,Rare renal,Placebo,11,36,47,TKV change from baseline at 36 months,1
+HLT011-001128,TRIAL-PKD-001,ADPKD,Rare renal,Tolvaptan,1,36,37,TKV change from baseline at 36 months,1
+HLT011-000955,TRIAL-PKD-001,ADPKD,Rare renal,Placebo,3,36,39,TKV change from baseline at 36 months,1
+HLT011-000186,TRIAL-PKD-001,ADPKD,Rare renal,Tolvaptan,0,36,36,TKV change from baseline at 36 months,1
+HLT011-001060,TRIAL-PKD-001,ADPKD,Rare renal,Placebo,0,36,36,TKV change from baseline at 36 months,1
+HLT011-000081,TRIAL-PKD-001,ADPKD,Rare renal,Tolvaptan,0,36,36,TKV change from baseline at 36 months,1
+HLT011-000649,TRIAL-PKD-001,ADPKD,Rare renal,Tolvaptan,0,36,36,TKV change from baseline at 36 months,1
+HLT011-000092,TRIAL-PKD-001,ADPKD,Rare renal,Tolvaptan,7,36,43,TKV change from baseline at 36 months,1
+HLT011-000493,TRIAL-PKD-001,ADPKD,Rare renal,Placebo,3,36,39,TKV change from baseline at 36 months,1
+HLT011-000275,TRIAL-PKD-001,ADPKD,Rare renal,Tolvaptan,10,36,46,TKV change from baseline at 36 months,1
+HLT011-000906,TRIAL-PKD-001,ADPKD,Rare renal,Tolvaptan,1,36,37,TKV change from baseline at 36 months,1
+HLT011-000004,TRIAL-PKD-001,ADPKD,Rare renal,Placebo,7,36,43,TKV change from baseline at 36 months,1
+HLT011-000653,TRIAL-PKD-001,ADPKD,Rare renal,Tolvaptan,5,36,41,TKV change from baseline at 36 months,1
+HLT011-000453,TRIAL-PKD-001,ADPKD,Rare renal,Tolvaptan,1,36,37,TKV change from baseline at 36 months,1
+HLT011-000800,TRIAL-PKD-001,ADPKD,Rare renal,Placebo,9,36,45,TKV change from baseline at 36 months,1
+HLT011-000102,TRIAL-PKD-001,ADPKD,Rare renal,Placebo,5,36,41,TKV change from baseline at 36 months,1
+HLT011-001316,TRIAL-PKD-001,ADPKD,Rare renal,Tolvaptan,9,36,45,TKV change from baseline at 36 months,1
+HLT011-001496,TRIAL-PKD-001,ADPKD,Rare renal,Tolvaptan,11,36,47,TKV change from baseline at 36 months,1
+HLT011-000300,TRIAL-PKD-001,ADPKD,Rare renal,Tolvaptan,7,36,43,TKV change from baseline at 36 months,1
+HLT011-000233,TRIAL-PKD-001,ADPKD,Rare renal,Placebo,11,36,47,TKV change from baseline at 36 months,1
+HLT011-000532,TRIAL-PKD-001,ADPKD,Rare renal,Tolvaptan,3,36,39,TKV change from baseline at 36 months,1
+HLT011-001308,TRIAL-PKD-001,ADPKD,Rare renal,Tolvaptan,4,36,40,TKV change from baseline at 36 months,1
+HLT011-001493,TRIAL-PKD-001,ADPKD,Rare renal,Tolvaptan,3,36,39,TKV change from baseline at 36 months,1
+HLT011-000122,TRIAL-PKD-001,ADPKD,Rare renal,Placebo,2,36,38,TKV change from baseline at 36 months,1
+HLT011-001121,TRIAL-PKD-001,ADPKD,Rare renal,Tolvaptan,5,36,41,TKV change from baseline at 36 months,1
+HLT011-000223,TRIAL-PKD-001,ADPKD,Rare renal,Tolvaptan,8,36,44,TKV change from baseline at 36 months,1
+HLT011-000467,TRIAL-PKD-001,ADPKD,Rare renal,Tolvaptan,1,36,37,TKV change from baseline at 36 months,1
+HLT011-000712,TRIAL-PKD-001,ADPKD,Rare renal,Tolvaptan,7,36,43,TKV change from baseline at 36 months,1
+HLT011-001377,TRIAL-PKD-001,ADPKD,Rare renal,Tolvaptan,5,36,41,TKV change from baseline at 36 months,1
+HLT011-000329,TRIAL-PKD-001,ADPKD,Rare renal,Placebo,1,36,37,TKV change from baseline at 36 months,1
+HLT011-000755,TRIAL-PKD-001,ADPKD,Rare renal,Placebo,4,36,40,TKV change from baseline at 36 months,1
+HLT011-001092,TRIAL-PKD-001,ADPKD,Rare renal,Tolvaptan,10,36,46,TKV change from baseline at 36 months,1
+HLT011-000078,TRIAL-PKD-001,ADPKD,Rare renal,Tolvaptan,11,36,47,TKV change from baseline at 36 months,1
+HLT011-000368,TRIAL-PKD-001,ADPKD,Rare renal,Tolvaptan,4,36,40,TKV change from baseline at 36 months,1
+HLT011-000736,TRIAL-PKD-001,ADPKD,Rare renal,Tolvaptan,10,36,46,TKV change from baseline at 36 months,1
+HLT011-000007,TRIAL-OI-001,Osteogenesis Imperfecta,Rare skeletal,Setrusumab,0,24,24,Lumbar spine BMD change at 24 months,1
+HLT011-000117,TRIAL-OI-001,Osteogenesis Imperfecta,Rare skeletal,Setrusumab,3,24,27,Lumbar spine BMD change at 24 months,1
+HLT011-000837,TRIAL-OI-001,Osteogenesis Imperfecta,Rare skeletal,Setrusumab,7,24,31,Lumbar spine BMD change at 24 months,1
+HLT011-000983,TRIAL-OI-001,Osteogenesis Imperfecta,Rare skeletal,Setrusumab,8,24,32,Lumbar spine BMD change at 24 months,1
+HLT011-000331,TRIAL-OI-001,Osteogenesis Imperfecta,Rare skeletal,Bisphosphonate,6,24,30,Lumbar spine BMD change at 24 months,1
+HLT011-001176,TRIAL-OI-001,Osteogenesis Imperfecta,Rare skeletal,Setrusumab,3,24,27,Lumbar spine BMD change at 24 months,1
+HLT011-000799,TRIAL-OI-001,Osteogenesis Imperfecta,Rare skeletal,Bisphosphonate,7,24,31,Lumbar spine BMD change at 24 months,1
+HLT011-001022,TRIAL-OI-001,Osteogenesis Imperfecta,Rare skeletal,Setrusumab,1,24,25,Lumbar spine BMD change at 24 months,1
+HLT011-000256,TRIAL-OI-001,Osteogenesis Imperfecta,Rare skeletal,Bisphosphonate,10,24,34,Lumbar spine BMD change at 24 months,1
+HLT011-001257,TRIAL-OI-001,Osteogenesis Imperfecta,Rare skeletal,Setrusumab,8,24,32,Lumbar spine BMD change at 24 months,1
+HLT011-000992,TRIAL-OI-001,Osteogenesis Imperfecta,Rare skeletal,Bisphosphonate,5,24,29,Lumbar spine BMD change at 24 months,1
+HLT011-001086,TRIAL-OI-001,Osteogenesis Imperfecta,Rare skeletal,Bisphosphonate,9,24,33,Lumbar spine BMD change at 24 months,1
+HLT011-000697,TRIAL-OI-001,Osteogenesis Imperfecta,Rare skeletal,Setrusumab,5,24,29,Lumbar spine BMD change at 24 months,1
+HLT011-000087,TRIAL-OI-001,Osteogenesis Imperfecta,Rare skeletal,Setrusumab,0,24,24,Lumbar spine BMD change at 24 months,1
+HLT011-001147,TRIAL-OI-001,Osteogenesis Imperfecta,Rare skeletal,Bisphosphonate,1,24,25,Lumbar spine BMD change at 24 months,1
+HLT011-000380,TRIAL-OI-001,Osteogenesis Imperfecta,Rare skeletal,Setrusumab,0,24,24,Lumbar spine BMD change at 24 months,1
+HLT011-000180,TRIAL-OI-001,Osteogenesis Imperfecta,Rare skeletal,Bisphosphonate,8,24,32,Lumbar spine BMD change at 24 months,1
+HLT011-000137,TRIAL-OI-001,Osteogenesis Imperfecta,Rare skeletal,Setrusumab,11,24,35,Lumbar spine BMD change at 24 months,1
+HLT011-000871,TRIAL-OI-001,Osteogenesis Imperfecta,Rare skeletal,Bisphosphonate,7,24,31,Lumbar spine BMD change at 24 months,1
+HLT011-000110,TRIAL-OI-001,Osteogenesis Imperfecta,Rare skeletal,Bisphosphonate,6,24,30,Lumbar spine BMD change at 24 months,1
+HLT011-001093,TRIAL-TS-001,Tuberous Sclerosis,Rare neurological,Placebo,10,18,28,SEGA volume reduction ≥50% at 9 months,1
+HLT011-001325,TRIAL-TS-001,Tuberous Sclerosis,Rare neurological,Everolimus,5,18,23,SEGA volume reduction ≥50% at 9 months,1
+HLT011-000044,TRIAL-TS-001,Tuberous Sclerosis,Rare neurological,Everolimus,5,18,23,SEGA volume reduction ≥50% at 9 months,1
+HLT011-001353,TRIAL-TS-001,Tuberous Sclerosis,Rare neurological,Everolimus,8,18,26,SEGA volume reduction ≥50% at 9 months,1
+HLT011-000157,TRIAL-TS-001,Tuberous Sclerosis,Rare neurological,Everolimus,8,18,26,SEGA volume reduction ≥50% at 9 months,1
+HLT011-000965,TRIAL-TS-001,Tuberous Sclerosis,Rare neurological,Everolimus,5,18,23,SEGA volume reduction ≥50% at 9 months,1
+HLT011-000401,TRIAL-TS-001,Tuberous Sclerosis,Rare neurological,Placebo,10,18,28,SEGA volume reduction ≥50% at 9 months,1
+HLT011-000330,TRIAL-TS-001,Tuberous Sclerosis,Rare neurological,Everolimus,3,18,21,SEGA volume reduction ≥50% at 9 months,1
+HLT011-000588,TRIAL-TS-001,Tuberous Sclerosis,Rare neurological,Placebo,3,18,21,SEGA volume reduction ≥50% at 9 months,1
+HLT011-001370,TRIAL-TS-001,Tuberous Sclerosis,Rare neurological,Placebo,7,18,25,SEGA volume reduction ≥50% at 9 months,1
+HLT011-000669,TRIAL-TS-001,Tuberous Sclerosis,Rare neurological,Everolimus,7,18,25,SEGA volume reduction ≥50% at 9 months,1
+HLT011-000277,TRIAL-TS-001,Tuberous Sclerosis,Rare neurological,Everolimus,8,18,26,SEGA volume reduction ≥50% at 9 months,1
+HLT011-000956,TRIAL-TS-001,Tuberous Sclerosis,Rare neurological,Placebo,0,18,18,SEGA volume reduction ≥50% at 9 months,1
+HLT011-000351,TRIAL-TS-001,Tuberous Sclerosis,Rare neurological,Everolimus,10,18,28,SEGA volume reduction ≥50% at 9 months,1
+HLT011-000700,TRIAL-TS-001,Tuberous Sclerosis,Rare neurological,Placebo,0,18,18,SEGA volume reduction ≥50% at 9 months,1
+HLT011-000705,TRIAL-TS-001,Tuberous Sclerosis,Rare neurological,Placebo,3,18,21,SEGA volume reduction ≥50% at 9 months,1
+HLT011-000077,TRIAL-TS-001,Tuberous Sclerosis,Rare neurological,Everolimus,9,18,27,SEGA volume reduction ≥50% at 9 months,1
+HLT011-000464,TRIAL-TS-001,Tuberous Sclerosis,Rare neurological,Everolimus,10,18,28,SEGA volume reduction ≥50% at 9 months,1
+HLT011-001294,TRIAL-TS-001,Tuberous Sclerosis,Rare neurological,Everolimus,5,18,23,SEGA volume reduction ≥50% at 9 months,1
+HLT011-000225,TRIAL-TS-001,Tuberous Sclerosis,Rare neurological,Everolimus,6,18,24,SEGA volume reduction ≥50% at 9 months,1
+HLT011-000640,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,5,24,29,VOC rate reduction ≥50% at 24 months,1
+HLT011-000924,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,0,24,24,VOC rate reduction ≥50% at 24 months,1
+HLT011-000079,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,2,24,26,VOC rate reduction ≥50% at 24 months,1
+HLT011-000714,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,3,24,27,VOC rate reduction ≥50% at 24 months,1
+HLT011-000672,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Voxelotor,2,24,26,VOC rate reduction ≥50% at 24 months,1
+HLT011-000961,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,7,24,31,VOC rate reduction ≥50% at 24 months,1
+HLT011-000461,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,11,24,35,VOC rate reduction ≥50% at 24 months,1
+HLT011-000228,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,0,24,24,VOC rate reduction ≥50% at 24 months,1
+HLT011-000212,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,4,24,28,VOC rate reduction ≥50% at 24 months,1
+HLT011-000690,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,4,24,28,VOC rate reduction ≥50% at 24 months,1
+HLT011-000999,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,11,24,35,VOC rate reduction ≥50% at 24 months,1
+HLT011-000827,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,1,24,25,VOC rate reduction ≥50% at 24 months,1
+HLT011-000960,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,6,24,30,VOC rate reduction ≥50% at 24 months,1
+HLT011-001328,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,1,24,25,VOC rate reduction ≥50% at 24 months,1
+HLT011-000017,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Voxelotor,4,24,28,VOC rate reduction ≥50% at 24 months,1
+HLT011-000328,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,8,24,32,VOC rate reduction ≥50% at 24 months,1
+HLT011-000818,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Voxelotor,5,24,29,VOC rate reduction ≥50% at 24 months,1
+HLT011-001126,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Voxelotor,9,24,33,VOC rate reduction ≥50% at 24 months,1
+HLT011-001383,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,4,24,28,VOC rate reduction ≥50% at 24 months,1
+HLT011-001274,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,3,24,27,VOC rate reduction ≥50% at 24 months,1
+HLT011-000559,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,2,24,26,VOC rate reduction ≥50% at 24 months,1
+HLT011-000244,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Voxelotor,11,24,35,VOC rate reduction ≥50% at 24 months,1
+HLT011-000496,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Voxelotor,3,24,27,VOC rate reduction ≥50% at 24 months,1
+HLT011-000951,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,11,24,35,VOC rate reduction ≥50% at 24 months,1
+HLT011-001265,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Voxelotor,10,24,34,VOC rate reduction ≥50% at 24 months,1
+HLT011-000882,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,3,24,27,VOC rate reduction ≥50% at 24 months,1
+HLT011-000360,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,0,24,24,VOC rate reduction ≥50% at 24 months,1
+HLT011-001216,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Voxelotor,8,24,32,VOC rate reduction ≥50% at 24 months,1
+HLT011-001155,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,2,24,26,VOC rate reduction ≥50% at 24 months,1
+HLT011-001034,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,3,24,27,VOC rate reduction ≥50% at 24 months,1
+HLT011-000289,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,9,24,33,VOC rate reduction ≥50% at 24 months,1
+HLT011-000490,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,10,24,34,VOC rate reduction ≥50% at 24 months,1
+HLT011-000696,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,11,24,35,VOC rate reduction ≥50% at 24 months,1
+HLT011-000183,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Voxelotor,11,24,35,VOC rate reduction ≥50% at 24 months,1
+HLT011-000524,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,0,24,24,VOC rate reduction ≥50% at 24 months,1
+HLT011-000829,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Voxelotor,1,24,25,VOC rate reduction ≥50% at 24 months,1
+HLT011-000920,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Voxelotor,7,24,31,VOC rate reduction ≥50% at 24 months,1
+HLT011-000483,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,9,24,33,VOC rate reduction ≥50% at 24 months,1
+HLT011-001077,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,5,24,29,VOC rate reduction ≥50% at 24 months,1
+HLT011-000130,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,3,24,27,VOC rate reduction ≥50% at 24 months,1
+HLT011-001418,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,5,24,29,VOC rate reduction ≥50% at 24 months,1
+HLT011-000969,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,9,24,33,VOC rate reduction ≥50% at 24 months,1
+HLT011-000611,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,3,24,27,VOC rate reduction ≥50% at 24 months,1
+HLT011-000542,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,9,24,33,VOC rate reduction ≥50% at 24 months,1
+HLT011-000303,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,10,24,34,VOC rate reduction ≥50% at 24 months,1
+HLT011-001399,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,5,24,29,VOC rate reduction ≥50% at 24 months,1
+HLT011-000537,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Voxelotor,8,24,32,VOC rate reduction ≥50% at 24 months,1
+HLT011-001462,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,5,24,29,VOC rate reduction ≥50% at 24 months,1
+HLT011-000148,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,1,24,25,VOC rate reduction ≥50% at 24 months,1
+HLT011-000675,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,3,24,27,VOC rate reduction ≥50% at 24 months,1
+HLT011-000958,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Voxelotor,9,24,33,VOC rate reduction ≥50% at 24 months,1
+HLT011-001344,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,4,24,28,VOC rate reduction ≥50% at 24 months,1
+HLT011-000465,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,8,24,32,VOC rate reduction ≥50% at 24 months,1
+HLT011-000336,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,4,24,28,VOC rate reduction ≥50% at 24 months,1
+HLT011-001259,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,9,24,33,VOC rate reduction ≥50% at 24 months,1
+HLT011-001302,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,3,24,27,VOC rate reduction ≥50% at 24 months,1
+HLT011-000431,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Voxelotor,7,24,31,VOC rate reduction ≥50% at 24 months,1
+HLT011-000165,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,4,24,28,VOC rate reduction ≥50% at 24 months,1
+HLT011-001201,TRIAL-SCD-001,Sickle Cell Disease,Rare hematological,Betibeglogene,2,24,26,VOC rate reduction ≥50% at 24 months,1
+HLT011-000370,TRIAL-NPC-001,Niemann-Pick Type C,Rare metabolic,Placebo,5,18,23,NPC-CSS score stabilization at 12 months,1
+HLT011-001478,TRIAL-NPC-001,Niemann-Pick Type C,Rare metabolic,Placebo,10,18,28,NPC-CSS score stabilization at 12 months,1
+HLT011-001489,TRIAL-NPC-001,Niemann-Pick Type C,Rare metabolic,Arimoclomol,6,18,24,NPC-CSS score stabilization at 12 months,1
+HLT011-001442,TRIAL-NPC-001,Niemann-Pick Type C,Rare metabolic,Arimoclomol,6,18,24,NPC-CSS score stabilization at 12 months,1
+HLT011-000511,TRIAL-NPC-001,Niemann-Pick Type C,Rare metabolic,Arimoclomol,6,18,24,NPC-CSS score stabilization at 12 months,1
+HLT011-000949,TRIAL-NPC-001,Niemann-Pick Type C,Rare metabolic,Placebo,11,18,29,NPC-CSS score stabilization at 12 months,1
+HLT011-000911,TRIAL-NPC-001,Niemann-Pick Type C,Rare metabolic,Placebo,5,18,23,NPC-CSS score stabilization at 12 months,1
+HLT011-000903,TRIAL-NPC-001,Niemann-Pick Type C,Rare metabolic,Arimoclomol,5,18,23,NPC-CSS score stabilization at 12 months,1
+HLT011-001083,TRIAL-NPC-001,Niemann-Pick Type C,Rare metabolic,Arimoclomol,4,18,22,NPC-CSS score stabilization at 12 months,1
+HLT011-000548,TRIAL-NPC-001,Niemann-Pick Type C,Rare metabolic,Arimoclomol,1,18,19,NPC-CSS score stabilization at 12 months,1
+HLT011-000361,TRIAL-NPC-001,Niemann-Pick Type C,Rare metabolic,Arimoclomol,1,18,19,NPC-CSS score stabilization at 12 months,1
+HLT011-000132,TRIAL-NPC-001,Niemann-Pick Type C,Rare metabolic,Placebo,0,18,18,NPC-CSS score stabilization at 12 months,1
+HLT011-001131,TRIAL-NPC-001,Niemann-Pick Type C,Rare metabolic,Arimoclomol,1,18,19,NPC-CSS score stabilization at 12 months,1
+HLT011-000280,TRIAL-NPC-001,Niemann-Pick Type C,Rare metabolic,Placebo,2,18,20,NPC-CSS score stabilization at 12 months,1
+HLT011-000075,TRIAL-NPC-001,Niemann-Pick Type C,Rare metabolic,Arimoclomol,1,18,19,NPC-CSS score stabilization at 12 months,1
+HLT011-000235,TRIAL-NPC-001,Niemann-Pick Type C,Rare metabolic,Placebo,10,18,28,NPC-CSS score stabilization at 12 months,1
+HLT011-001271,TRIAL-NPC-001,Niemann-Pick Type C,Rare metabolic,Arimoclomol,0,18,18,NPC-CSS score stabilization at 12 months,1
+HLT011-001394,TRIAL-NPC-001,Niemann-Pick Type C,Rare metabolic,Arimoclomol,8,18,26,NPC-CSS score stabilization at 12 months,1
+HLT011-001486,TRIAL-NPC-001,Niemann-Pick Type C,Rare metabolic,Placebo,0,18,18,NPC-CSS score stabilization at 12 months,1
+HLT011-000449,TRIAL-NPC-001,Niemann-Pick Type C,Rare metabolic,Placebo,9,18,27,NPC-CSS score stabilization at 12 months,1
+HLT011-000293,TRIAL-NPC-001,Niemann-Pick Type C,Rare metabolic,Arimoclomol,5,18,23,NPC-CSS score stabilization at 12 months,1
+HLT011-001334,TRIAL-LCA-001,Leber Congenital Amaurosis,Rare ophthalmic,Voretigene,3,12,15,MLMT performance score improvement at 1 year,1
+HLT011-000892,TRIAL-LCA-001,Leber Congenital Amaurosis,Rare ophthalmic,Voretigene,8,12,20,MLMT performance score improvement at 1 year,1
+HLT011-000982,TRIAL-LCA-001,Leber Congenital Amaurosis,Rare ophthalmic,Sham-control,9,12,21,MLMT performance score improvement at 1 year,1
+HLT011-001305,TRIAL-LCA-001,Leber Congenital Amaurosis,Rare ophthalmic,Voretigene,0,12,12,MLMT performance score improvement at 1 year,1
+HLT011-001264,TRIAL-LCA-001,Leber Congenital Amaurosis,Rare ophthalmic,Voretigene,2,12,14,MLMT performance score improvement at 1 year,1
+HLT011-001378,TRIAL-LCA-001,Leber Congenital Amaurosis,Rare ophthalmic,Voretigene,10,12,22,MLMT performance score improvement at 1 year,1
+HLT011-000046,TRIAL-LCA-001,Leber Congenital Amaurosis,Rare ophthalmic,Voretigene,6,12,18,MLMT performance score improvement at 1 year,1
+HLT011-000327,TRIAL-LCA-001,Leber Congenital Amaurosis,Rare ophthalmic,Voretigene,10,12,22,MLMT performance score improvement at 1 year,1
+HLT011-000214,TRIAL-LCA-001,Leber Congenital Amaurosis,Rare ophthalmic,Voretigene,6,12,18,MLMT performance score improvement at 1 year,1
+HLT011-000045,TRIAL-LCA-001,Leber Congenital Amaurosis,Rare ophthalmic,Voretigene,7,12,19,MLMT performance score improvement at 1 year,1
+HLT011-000151,TRIAL-LCA-001,Leber Congenital Amaurosis,Rare ophthalmic,Voretigene,8,12,20,MLMT performance score improvement at 1 year,1
+HLT011-001144,TRIAL-LCA-001,Leber Congenital Amaurosis,Rare ophthalmic,Sham-control,9,12,21,MLMT performance score improvement at 1 year,1
+HLT011-001186,TRIAL-LCA-001,Leber Congenital Amaurosis,Rare ophthalmic,Voretigene,7,12,19,MLMT performance score improvement at 1 year,1
+HLT011-000667,TRIAL-LCA-001,Leber Congenital Amaurosis,Rare ophthalmic,Voretigene,9,12,21,MLMT performance score improvement at 1 year,1
+HLT011-000543,TRIAL-LCA-001,Leber Congenital Amaurosis,Rare ophthalmic,Voretigene,1,12,13,MLMT performance score improvement at 1 year,1
+HLT011-000334,TRIAL-LCA-001,Leber Congenital Amaurosis,Rare ophthalmic,Voretigene,11,12,23,MLMT performance score improvement at 1 year,1
+HLT011-001392,TRIAL-LCA-001,Leber Congenital Amaurosis,Rare ophthalmic,Sham-control,10,12,22,MLMT performance score improvement at 1 year,1
+HLT011-000508,TRIAL-LCA-001,Leber Congenital Amaurosis,Rare ophthalmic,Voretigene,4,12,16,MLMT performance score improvement at 1 year,1
+HLT011-000219,TRIAL-LCA-001,Leber Congenital Amaurosis,Rare ophthalmic,Voretigene,7,12,19,MLMT performance score improvement at 1 year,1
+HLT011-000520,TRIAL-LCA-001,Leber Congenital Amaurosis,Rare ophthalmic,Sham-control,10,12,22,MLMT performance score improvement at 1 year,1
+HLT011-001169,TRIAL-LCA-001,Leber Congenital Amaurosis,Rare ophthalmic,Voretigene,9,12,21,MLMT performance score improvement at 1 year,1
+HLT011-000056,TRIAL-CAH-001,Congenital Adrenal Hyperplasia,Rare endocrine,Placebo,0,24,24,Androstenedione normalization at 24 weeks,1
+HLT011-001148,TRIAL-CAH-001,Congenital Adrenal Hyperplasia,Rare endocrine,Crinecerfont,8,24,32,Androstenedione normalization at 24 weeks,1
+HLT011-000178,TRIAL-CAH-001,Congenital Adrenal Hyperplasia,Rare endocrine,Crinecerfont,3,24,27,Androstenedione normalization at 24 weeks,1
+HLT011-000001,TRIAL-CAH-001,Congenital Adrenal Hyperplasia,Rare endocrine,Crinecerfont,0,24,24,Androstenedione normalization at 24 weeks,1
+HLT011-000529,TRIAL-CAH-001,Congenital Adrenal Hyperplasia,Rare endocrine,Crinecerfont,1,24,25,Androstenedione normalization at 24 weeks,1
+HLT011-001118,TRIAL-CAH-001,Congenital Adrenal Hyperplasia,Rare endocrine,Placebo,4,24,28,Androstenedione normalization at 24 weeks,1
+HLT011-000403,TRIAL-CAH-001,Congenital Adrenal Hyperplasia,Rare endocrine,Crinecerfont,11,24,35,Androstenedione normalization at 24 weeks,1
+HLT011-000185,TRIAL-CAH-001,Congenital Adrenal Hyperplasia,Rare endocrine,Crinecerfont,2,24,26,Androstenedione normalization at 24 weeks,1
+HLT011-001416,TRIAL-CAH-001,Congenital Adrenal Hyperplasia,Rare endocrine,Crinecerfont,0,24,24,Androstenedione normalization at 24 weeks,1
+HLT011-001160,TRIAL-CAH-001,Congenital Adrenal Hyperplasia,Rare endocrine,Crinecerfont,9,24,33,Androstenedione normalization at 24 weeks,1
+HLT011-000495,TRIAL-CAH-001,Congenital Adrenal Hyperplasia,Rare endocrine,Placebo,9,24,33,Androstenedione normalization at 24 weeks,1
+HLT011-000662,TRIAL-CAH-001,Congenital Adrenal Hyperplasia,Rare endocrine,Crinecerfont,9,24,33,Androstenedione normalization at 24 weeks,1
+HLT011-000842,TRIAL-CAH-001,Congenital Adrenal Hyperplasia,Rare endocrine,Crinecerfont,10,24,34,Androstenedione normalization at 24 weeks,1
+HLT011-000296,TRIAL-CAH-001,Congenital Adrenal Hyperplasia,Rare endocrine,Crinecerfont,11,24,35,Androstenedione normalization at 24 weeks,1
+HLT011-000152,TRIAL-CAH-001,Congenital Adrenal Hyperplasia,Rare endocrine,Crinecerfont,11,24,35,Androstenedione normalization at 24 weeks,1
+HLT011-000345,TRIAL-CAH-001,Congenital Adrenal Hyperplasia,Rare endocrine,Placebo,11,24,35,Androstenedione normalization at 24 weeks,1
+HLT011-000073,TRIAL-CAH-001,Congenital Adrenal Hyperplasia,Rare endocrine,Crinecerfont,11,24,35,Androstenedione normalization at 24 weeks,1
+HLT011-000459,TRIAL-CAH-001,Congenital Adrenal Hyperplasia,Rare endocrine,Crinecerfont,6,24,30,Androstenedione normalization at 24 weeks,1
+HLT011-000993,TRIAL-CAH-001,Congenital Adrenal Hyperplasia,Rare endocrine,Placebo,8,24,32,Androstenedione normalization at 24 weeks,1
+HLT011-001324,TRIAL-CAH-001,Congenital Adrenal Hyperplasia,Rare endocrine,Crinecerfont,5,24,29,Androstenedione normalization at 24 weeks,1
+HLT011-000627,TRIAL-CAH-001,Congenital Adrenal Hyperplasia,Rare endocrine,Placebo,9,24,33,Androstenedione normalization at 24 weeks,1
+HLT011-000639,TRIAL-CAH-001,Congenital Adrenal Hyperplasia,Rare endocrine,Placebo,11,24,35,Androstenedione normalization at 24 weeks,1
+HLT011-000242,TRIAL-CAH-001,Congenital Adrenal Hyperplasia,Rare endocrine,Crinecerfont,10,24,34,Androstenedione normalization at 24 weeks,1
+HLT011-000708,TRIAL-CAH-001,Congenital Adrenal Hyperplasia,Rare endocrine,Placebo,0,24,24,Androstenedione normalization at 24 weeks,1
+HLT011-000715,TRIAL-CAH-001,Congenital Adrenal Hyperplasia,Rare endocrine,Placebo,0,24,24,Androstenedione normalization at 24 weeks,1
+HLT011-000426,TRIAL-CAH-001,Congenital Adrenal Hyperplasia,Rare endocrine,Crinecerfont,6,24,30,Androstenedione normalization at 24 weeks,1
+HLT011-000105,TRIAL-CAH-001,Congenital Adrenal Hyperplasia,Rare endocrine,Crinecerfont,8,24,32,Androstenedione normalization at 24 weeks,1
+HLT011-001074,TRIAL-CAH-001,Congenital Adrenal Hyperplasia,Rare endocrine,Crinecerfont,5,24,29,Androstenedione normalization at 24 weeks,1

trial_screening_funnel.csv

@@ -0,0 +1,16 @@
+trial_id,disease,phase,target_n,n_eligible,n_approached,n_consented,n_consent_refused,n_screened,n_screen_fail,n_screen_pass,n_enrolled,n_target_met,enrollment_rate,screen_fail_rate
+TRIAL-GD-001,Gaucher Disease Type 1,Phase 3,120,72,72,48,24,48,12,36,29,0,0.403,0.25
+TRIAL-SMA-001,Spinal Muscular Atrophy,Phase 3,80,59,59,48,11,48,16,32,27,0,0.458,0.333
+TRIAL-CF-001,Cystic Fibrosis,Phase 3,200,164,164,114,50,114,44,70,57,0,0.348,0.386
+TRIAL-DMD-001,Duchenne Muscular Dystrophy,Phase 2/3,60,82,82,56,26,56,13,43,30,0,0.366,0.232
+TRIAL-HD-001,Huntington Disease,Phase 2/3,100,16,16,11,5,11,3,8,6,0,0.375,0.273
+TRIAL-FAB-001,Fabry Disease,Phase 3,90,38,38,28,10,28,12,16,11,0,0.289,0.429
+TRIAL-MFS-001,Marfan Syndrome,Phase 3,150,176,176,142,34,142,51,91,73,0,0.415,0.359
+TRIAL-HEM-001,Hemophilia A,Phase 3,70,35,35,28,7,28,7,21,18,0,0.514,0.25
+TRIAL-PKD-001,ADPKD,Phase 3,180,126,126,90,36,90,30,60,47,0,0.373,0.333
+TRIAL-OI-001,Osteogenesis Imperfecta,Phase 2/3,100,60,60,43,17,43,17,26,20,0,0.333,0.395
+TRIAL-TS-001,Tuberous Sclerosis,Phase 3,80,62,62,40,22,40,13,27,20,0,0.323,0.325
+TRIAL-SCD-001,Sickle Cell Disease,Phase 3,75,112,112,86,26,86,20,66,59,0,0.527,0.233
+TRIAL-NPC-001,Niemann-Pick Type C,Phase 2/3,50,49,49,37,12,37,12,25,21,0,0.429,0.324
+TRIAL-LCA-001,Leber Congenital Amaurosis,Phase 3,40,44,44,34,10,34,8,26,21,0,0.477,0.235
+TRIAL-CAH-001,Congenital Adrenal Hyperplasia,Phase 3,110,75,75,57,18,57,21,36,28,0,0.373,0.368

trial_templates.json

@@ -0,0 +1,508 @@
+{
+  "TRIAL-GD-001": {
+    "disease": "Gaucher Disease Type 1",
+    "disease_group": "Rare metabolic",
+    "phase": "Phase 3",
+    "intervention": "Imiglucerase ERT vs Eliglustat SRT",
+    "n_target": 120,
+    "duration_months": 24,
+    "primary_endpoint": "Enzyme activity normalization at 12 months",
+    "secondary_endpoints": [
+      "Spleen volume reduction",
+      "Hemoglobin normalization",
+      "Platelet count normalization"
+    ],
+    "inclusion": {
+      "min_age": 2,
+      "max_age": 70,
+      "required_acmg": [
+        "Pathogenic",
+        "Likely pathogenic"
+      ],
+      "required_gene": "GBA1",
+      "max_functional_status": 3,
+      "min_eligibility_score": 0.55
+    },
+    "exclusion": {
+      "ae_grade_cutoff": 4,
+      "required_prior_treatment": false
+    },
+    "arm_allocation": {
+      "Imiglucerase": 0.5,
+      "Eliglustat": 0.5
+    },
+    "biomarker_response_threshold": 0.4
+  },
+  "TRIAL-SMA-001": {
+    "disease": "Spinal Muscular Atrophy",
+    "disease_group": "Rare neurological",
+    "phase": "Phase 3",
+    "intervention": "Nusinersen ASO vs Onasemnogene gene therapy",
+    "n_target": 80,
+    "duration_months": 24,
+    "primary_endpoint": "Motor milestone achievement at 14 months",
+    "secondary_endpoints": [
+      "Ventilator-free survival",
+      "HINE-2 motor score",
+      "Caregiver burden reduction"
+    ],
+    "inclusion": {
+      "min_age": 0,
+      "max_age": 18,
+      "required_acmg": [
+        "Pathogenic"
+      ],
+      "required_gene": "SMN1",
+      "max_functional_status": 3,
+      "min_eligibility_score": 0.6
+    },
+    "exclusion": {
+      "ae_grade_cutoff": 3,
+      "required_prior_treatment": false
+    },
+    "arm_allocation": {
+      "Nusinersen": 0.5,
+      "Onasemnogene": 0.5
+    },
+    "biomarker_response_threshold": 0.35
+  },
+  "TRIAL-CF-001": {
+    "disease": "Cystic Fibrosis",
+    "disease_group": "Rare pulmonary",
+    "phase": "Phase 3",
+    "intervention": "Elexacaftor/Tezacaftor/Ivacaftor triple therapy",
+    "n_target": 200,
+    "duration_months": 24,
+    "primary_endpoint": "ppFEV1 change from baseline at 24 weeks",
+    "secondary_endpoints": [
+      "Sweat chloride reduction",
+      "CFQ-R score improvement",
+      "Pulmonary exacerbation rate"
+    ],
+    "inclusion": {
+      "min_age": 6,
+      "max_age": 65,
+      "required_acmg": [
+        "Pathogenic",
+        "Likely pathogenic"
+      ],
+      "required_gene": "CFTR",
+      "max_functional_status": 2,
+      "min_eligibility_score": 0.6
+    },
+    "exclusion": {
+      "ae_grade_cutoff": 3,
+      "required_prior_treatment": true
+    },
+    "arm_allocation": {
+      "ETI-triple": 0.67,
+      "Placebo": 0.33
+    },
+    "biomarker_response_threshold": 0.45
+  },
+  "TRIAL-DMD-001": {
+    "disease": "Duchenne Muscular Dystrophy",
+    "disease_group": "Rare muscular",
+    "phase": "Phase 2/3",
+    "intervention": "Exon 51 skipping ASO therapy",
+    "n_target": 60,
+    "duration_months": 18,
+    "primary_endpoint": "6MWT distance change at 48 weeks",
+    "secondary_endpoints": [
+      "NSAA score",
+      "EK score",
+      "Respiratory function (FVC)",
+      "Dystrophin expression"
+    ],
+    "inclusion": {
+      "min_age": 5,
+      "max_age": 18,
+      "required_acmg": [
+        "Pathogenic"
+      ],
+      "required_gene": "DMD",
+      "max_functional_status": 3,
+      "min_eligibility_score": 0.55
+    },
+    "exclusion": {
+      "ae_grade_cutoff": 3,
+      "required_prior_treatment": false
+    },
+    "arm_allocation": {
+      "ASO-active": 0.67,
+      "Placebo": 0.33
+    },
+    "biomarker_response_threshold": 0.3
+  },
+  "TRIAL-HD-001": {
+    "disease": "Huntington Disease",
+    "disease_group": "Rare neurological",
+    "phase": "Phase 2/3",
+    "intervention": "HTT-lowering ASO intrathecal therapy",
+    "n_target": 100,
+    "duration_months": 24,
+    "primary_endpoint": "mHTT concentration reduction in CSF at 13 months",
+    "secondary_endpoints": [
+      "UHDRS motor score",
+      "Cognitive composite",
+      "Brain volume preservation"
+    ],
+    "inclusion": {
+      "min_age": 25,
+      "max_age": 65,
+      "required_acmg": [
+        "Pathogenic"
+      ],
+      "required_gene": "HTT",
+      "max_functional_status": 2,
+      "min_eligibility_score": 0.6
+    },
+    "exclusion": {
+      "ae_grade_cutoff": 3,
+      "required_prior_treatment": false
+    },
+    "arm_allocation": {
+      "HTT-ASO": 0.67,
+      "Placebo": 0.33
+    },
+    "biomarker_response_threshold": 0.4
+  },
+  "TRIAL-FAB-001": {
+    "disease": "Fabry Disease",
+    "disease_group": "Rare metabolic",
+    "phase": "Phase 3",
+    "intervention": "Agalsidase beta ERT vs Migalastat chaperone",
+    "n_target": 90,
+    "duration_months": 24,
+    "primary_endpoint": "GFR stabilization and lyso-Gb3 reduction at 24 months",
+    "secondary_endpoints": [
+      "Neuropathic pain (BPI)",
+      "Cardiac mass reduction",
+      "Quality of life"
+    ],
+    "inclusion": {
+      "min_age": 18,
+      "max_age": 65,
+      "required_acmg": [
+        "Pathogenic",
+        "Likely pathogenic"
+      ],
+      "required_gene": "GLA",
+      "max_functional_status": 3,
+      "min_eligibility_score": 0.55
+    },
+    "exclusion": {
+      "ae_grade_cutoff": 4,
+      "required_prior_treatment": false
+    },
+    "arm_allocation": {
+      "Agalsidase-beta": 0.5,
+      "Migalastat": 0.5
+    },
+    "biomarker_response_threshold": 0.35
+  },
+  "TRIAL-MFS-001": {
+    "disease": "Marfan Syndrome",
+    "disease_group": "Rare cardiac",
+    "phase": "Phase 3",
+    "intervention": "Losartan vs Atenolol for aortic root dilation",
+    "n_target": 150,
+    "duration_months": 36,
+    "primary_endpoint": "Aortic root z-score change at 36 months",
+    "secondary_endpoints": [
+      "Aortic dissection rate",
+      "Systolic/diastolic function",
+      "QoL"
+    ],
+    "inclusion": {
+      "min_age": 6,
+      "max_age": 60,
+      "required_acmg": [
+        "Pathogenic",
+        "Likely pathogenic"
+      ],
+      "required_gene": "FBN1",
+      "max_functional_status": 2,
+      "min_eligibility_score": 0.55
+    },
+    "exclusion": {
+      "ae_grade_cutoff": 3,
+      "required_prior_treatment": true
+    },
+    "arm_allocation": {
+      "Losartan": 0.5,
+      "Atenolol": 0.5
+    },
+    "biomarker_response_threshold": 0.3
+  },
+  "TRIAL-HEM-001": {
+    "disease": "Hemophilia A",
+    "disease_group": "Rare hematological",
+    "phase": "Phase 3",
+    "intervention": "Gene therapy (AAV5-F8) vs Factor VIII prophylaxis",
+    "n_target": 70,
+    "duration_months": 36,
+    "primary_endpoint": "ABR reduction \u226580% from baseline at 12 months",
+    "secondary_endpoints": [
+      "Factor VIII activity",
+      "Joint health score",
+      "Treatment burden"
+    ],
+    "inclusion": {
+      "min_age": 18,
+      "max_age": 70,
+      "required_acmg": [
+        "Pathogenic"
+      ],
+      "required_gene": "F8",
+      "max_functional_status": 2,
+      "min_eligibility_score": 0.6
+    },
+    "exclusion": {
+      "ae_grade_cutoff": 3,
+      "required_prior_treatment": true
+    },
+    "arm_allocation": {
+      "AAV5-F8": 0.67,
+      "Factor-VIII-prophylaxis": 0.33
+    },
+    "biomarker_response_threshold": 0.5
+  },
+  "TRIAL-PKD-001": {
+    "disease": "ADPKD",
+    "disease_group": "Rare renal",
+    "phase": "Phase 3",
+    "intervention": "Tolvaptan vs placebo for TKV reduction",
+    "n_target": 180,
+    "duration_months": 36,
+    "primary_endpoint": "TKV change from baseline at 36 months",
+    "secondary_endpoints": [
+      "eGFR decline rate",
+      "Kidney pain events",
+      "Osmolality"
+    ],
+    "inclusion": {
+      "min_age": 18,
+      "max_age": 55,
+      "required_acmg": [
+        "Pathogenic",
+        "Likely pathogenic"
+      ],
+      "required_gene": "PKD1",
+      "max_functional_status": 2,
+      "min_eligibility_score": 0.55
+    },
+    "exclusion": {
+      "ae_grade_cutoff": 3,
+      "required_prior_treatment": false
+    },
+    "arm_allocation": {
+      "Tolvaptan": 0.67,
+      "Placebo": 0.33
+    },
+    "biomarker_response_threshold": 0.35
+  },
+  "TRIAL-OI-001": {
+    "disease": "Osteogenesis Imperfecta",
+    "disease_group": "Rare skeletal",
+    "phase": "Phase 2/3",
+    "intervention": "Setrusumab anti-sclerostin vs bisphosphonate",
+    "n_target": 100,
+    "duration_months": 24,
+    "primary_endpoint": "Lumbar spine BMD change at 24 months",
+    "secondary_endpoints": [
+      "Fracture rate",
+      "Height velocity",
+      "Pain score"
+    ],
+    "inclusion": {
+      "min_age": 5,
+      "max_age": 50,
+      "required_acmg": [
+        "Pathogenic",
+        "Likely pathogenic"
+      ],
+      "required_gene": "COL1A1",
+      "max_functional_status": 3,
+      "min_eligibility_score": 0.5
+    },
+    "exclusion": {
+      "ae_grade_cutoff": 3,
+      "required_prior_treatment": true
+    },
+    "arm_allocation": {
+      "Setrusumab": 0.67,
+      "Bisphosphonate": 0.33
+    },
+    "biomarker_response_threshold": 0.3
+  },
+  "TRIAL-TS-001": {
+    "disease": "Tuberous Sclerosis",
+    "disease_group": "Rare neurological",
+    "phase": "Phase 3",
+    "intervention": "Everolimus mTOR inhibitor",
+    "n_target": 80,
+    "duration_months": 18,
+    "primary_endpoint": "SEGA volume reduction \u226550% at 9 months",
+    "secondary_endpoints": [
+      "Angiomyolipoma response",
+      "Seizure frequency",
+      "Skin lesion response"
+    ],
+    "inclusion": {
+      "min_age": 3,
+      "max_age": 65,
+      "required_acmg": [
+        "Pathogenic",
+        "Likely pathogenic"
+      ],
+      "required_gene": "TSC1",
+      "max_functional_status": 3,
+      "min_eligibility_score": 0.55
+    },
+    "exclusion": {
+      "ae_grade_cutoff": 3,
+      "required_prior_treatment": true
+    },
+    "arm_allocation": {
+      "Everolimus": 0.67,
+      "Placebo": 0.33
+    },
+    "biomarker_response_threshold": 0.4
+  },
+  "TRIAL-SCD-001": {
+    "disease": "Sickle Cell Disease",
+    "disease_group": "Rare hematological",
+    "phase": "Phase 3",
+    "intervention": "Betibeglogene gene therapy vs Voxelotor",
+    "n_target": 75,
+    "duration_months": 24,
+    "primary_endpoint": "VOC rate reduction \u226550% at 24 months",
+    "secondary_endpoints": [
+      "Hemoglobin level",
+      "Transfusion independence",
+      "Quality of life"
+    ],
+    "inclusion": {
+      "min_age": 12,
+      "max_age": 50,
+      "required_acmg": [
+        "Pathogenic"
+      ],
+      "required_gene": "HBB",
+      "max_functional_status": 3,
+      "min_eligibility_score": 0.55
+    },
+    "exclusion": {
+      "ae_grade_cutoff": 4,
+      "required_prior_treatment": true
+    },
+    "arm_allocation": {
+      "Betibeglogene": 0.67,
+      "Voxelotor": 0.33
+    },
+    "biomarker_response_threshold": 0.45
+  },
+  "TRIAL-NPC-001": {
+    "disease": "Niemann-Pick Type C",
+    "disease_group": "Rare metabolic",
+    "phase": "Phase 2/3",
+    "intervention": "Arimoclomol HSP inducer",
+    "n_target": 50,
+    "duration_months": 18,
+    "primary_endpoint": "NPC-CSS score stabilization at 12 months",
+    "secondary_endpoints": [
+      "Oculomotor function",
+      "Cerebellar ataxia",
+      "Swallowing function"
+    ],
+    "inclusion": {
+      "min_age": 4,
+      "max_age": 45,
+      "required_acmg": [
+        "Pathogenic",
+        "Likely pathogenic"
+      ],
+      "required_gene": "NPC1",
+      "max_functional_status": 3,
+      "min_eligibility_score": 0.5
+    },
+    "exclusion": {
+      "ae_grade_cutoff": 3,
+      "required_prior_treatment": true
+    },
+    "arm_allocation": {
+      "Arimoclomol": 0.67,
+      "Placebo": 0.33
+    },
+    "biomarker_response_threshold": 0.25
+  },
+  "TRIAL-LCA-001": {
+    "disease": "Leber Congenital Amaurosis",
+    "disease_group": "Rare ophthalmic",
+    "phase": "Phase 3",
+    "intervention": "Voretigene neparvovec gene therapy",
+    "n_target": 40,
+    "duration_months": 12,
+    "primary_endpoint": "MLMT performance score improvement at 1 year",
+    "secondary_endpoints": [
+      "Full-field light sensitivity",
+      "Visual acuity",
+      "Visual field"
+    ],
+    "inclusion": {
+      "min_age": 3,
+      "max_age": 65,
+      "required_acmg": [
+        "Pathogenic",
+        "Likely pathogenic"
+      ],
+      "required_gene": "CEP290",
+      "max_functional_status": 2,
+      "min_eligibility_score": 0.6
+    },
+    "exclusion": {
+      "ae_grade_cutoff": 3,
+      "required_prior_treatment": false
+    },
+    "arm_allocation": {
+      "Voretigene": 0.67,
+      "Sham-control": 0.33
+    },
+    "biomarker_response_threshold": 0.5
+  },
+  "TRIAL-CAH-001": {
+    "disease": "Congenital Adrenal Hyperplasia",
+    "disease_group": "Rare endocrine",
+    "phase": "Phase 3",
+    "intervention": "Crinecerfont (CRF1 receptor antagonist)",
+    "n_target": 110,
+    "duration_months": 24,
+    "primary_endpoint": "Androstenedione normalization at 24 weeks",
+    "secondary_endpoints": [
+      "Cortisol sufficiency",
+      "Corticosteroid dose reduction",
+      "Growth velocity"
+    ],
+    "inclusion": {
+      "min_age": 4,
+      "max_age": 50,
+      "required_acmg": [
+        "Pathogenic",
+        "Likely pathogenic"
+      ],
+      "required_gene": "CYP21A2",
+      "max_functional_status": 2,
+      "min_eligibility_score": 0.55
+    },
+    "exclusion": {
+      "ae_grade_cutoff": 3,
+      "required_prior_treatment": true
+    },
+    "arm_allocation": {
+      "Crinecerfont": 0.67,
+      "Placebo": 0.33
+    },
+    "biomarker_response_threshold": 0.4
+  }
+}