79 completed, 11 not yet recruiting, 10 recruiting, 6 terminated. 117 Phase 1, 36 Phase 2.
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Tick up to 5 trials to compare them side by side (eligibility, arms, endpoints, adverse events) in a Literature Matrix.
| Trial | Phase | Status | Sponsor | Enrollment | Start | Updated |
|---|---|---|---|---|---|---|
| Epidermal Growth Factor Receptor Inhibition for Keratinopathies Erlotinib - Epidermolytic Ichthyosis, Palmoplantar Keratoderma | Phase 1 / Phase 2 | Not yet recruiting | Northwestern University | 44 | 2027-07-01 | 2026-08-03 |
| A Study to Investigate the Pharmacokinetics of JMKX003142 in Healthy Participants and Participants With Hepatic Impairment JMKX003142 - ADPKD (Autosomal Dominant Polycystic Kidney Disease), Renal Edema | Phase 1 | Not yet recruiting | Jemincare | 32 | 2026-11-20 | 2026-11-02 |
| Study to Evaluate Pharmacokinetics, Safety, and Tolerability of Subcutaneous Injections of Elamipretide in Pediatric Subjects With Barth Syndrome Elamipretide - Barth Syndrome | Phase 1 | Not yet recruiting | Stealth BioTherapeutics Inc. | 6 | 2026-11-01 | 2026-11-10 |
| Absorption, Distribution, Metabolism, and Excretion of 14C-VX-407 After a Single Oral Dose 14C-VX-407 - Autosomal Dominant Polycystic Kidney Disease (ADPKD) | Phase 1 | Recruiting | Vertex Pharmaceuticals Incorporated | 8 | 2026-10-16 | 2026-10-30 |
| Escalating Doses of Memantine in Down Syndrome (MEDS-123) Memantine - Down Syndrome, Intellectual Disability | Phase 1 | Not yet recruiting | University Hospitals Cleveland Medical Center | 25 | 2026-10-14 | 2026-10-05 |
| Effects of VX-407 on the Pharmacokinetics of Combined Oral Contraceptives VX-407, LNG/EE, NGM/EE - Autosomal Dominant Polycystic Kidney Disease (ADPKD) | Phase 1 | Recruiting | Vertex Pharmaceuticals Incorporated | 148 | 2026-09-01 | 2026-09-30 |
| NAD Augmentation to Prevent or Reverse Alzheimer's Disease in People With Down Syndrome MIB-626, Placebo - Down Syndrome (DS) | Phase 1 | Not yet recruiting | Brigham and Women's Hospital | 24 | 2026-08-31 | 2026-08-19 |
| A Phase 1 Study of Single and Multiple Ascending Doses of GV-100 GV-100, Placebo - ADPKD (Autosomal Dominant Polycystic Kidney Disease) | Phase 1 | Recruiting | Gilva Therapeutics Inc. | 80 | 2026-06-23 | 2026-08-26 |
| Drug-Drug Interactions of JMKX003142 in Healthy Participants JMKX003142 tablets, Fluconazole Capsules, Cocktail Substrates (Midazolam Oral Solution, Rosuvastatin Calcium Tablets, and Digoxin Tablets) - ADPKD (Autosomal Dominant Polycystic Kidney Disease) | Phase 1 | Not yet recruiting | Jemincare | 112 | 2026-05-11 | 2026-05-04 |
| A Study to Investigate the Effects of JMKX003142 on QTc Interval in Healthy Adults JMKX003142 tablets, Placebo - ADPKD (Autosomal Dominant Polycystic Kidney Disease) | Phase 1 | Not yet recruiting | Jemincare | 24 | 2026-03-27 | 2026-03-13 |
| Mass Balance and Absolute Bioavailability Study of JMKX003142 In Healthy Volunteers [14C]JMKX003142, JMKX003142 tablets, [14C]JMKX003142 solution for infusion - ADPKD (Autosomal Dominant Polycystic Kidney Disease) | Phase 1 | Not yet recruiting | Jemincare | 8 | 2026-03-18 | 2026-03-10 |
| Safety, Tolerability and Pharmacokinetics of AZD1613 in Adults With Autosomal Dominant Polycystic Kidney Disease AZD1613 - Part A, Placebo - Part A, AZD1613 - Part B - Autosomal Dominant Polycystic Kidney Disease | Phase 1 | Recruiting | AstraZeneca | 40 | 2025-11-10 | 2026-10-13 |
| Drug-Drug Interaction of JMKX003142 With Amiodarone and Febuxostat in Healthy Subjects Amiodarone Hydrochloride Tablets, Febuxostat Tablets - Autosomal Dominant Polycystic Kidney Disease (ADPKD) | Phase 1 | Not yet recruiting | Jemincare | 48 | 2025-10-30 | 2025-09-18 |
| A Phase 1/2 Study of the Safety and Efficacy of MVX-220 in Angelman Syndrome MVX-220 - Angelman Syndrome | Phase 1 / Phase 2 | Recruiting | MavriX Bio, LLC | 12 | 2025-10-29 | 2026-07-24 |
| Effects of VX-407 on the Pharmacokinetics of Oral Contraceptives in Healthy Participants VX-407, LNG/EE, NGM/EE - Autosomal Dominant Polycystic Kidney Disease (ADPKD) | Phase 1 | Completed | Vertex Pharmaceuticals Incorporated | 74 | 2025-07-11 | 2026-03-30 |
| A Phase 1 Study Evaluating Safety, Tolerability, and Pharmacokinetics of VX-407 in Healthy Participants VX-407, Placebo - Autosomal Dominant Polycystic Kidney Disease (ADPKD) | Phase 1 | Completed | Vertex Pharmaceuticals Incorporated | 32 | 2025-06-12 | 2026-03-27 |
| Phase 1 Study to Evaluate the Safety and Tolerability of Intravenously Administered PYC-003 PYC-003 - Autosomal Dominant Polycystic Kidney Disease (ADPKD) | Phase 1 | Recruiting | PYC Therapeutics | 166 | 2025-04-07 | 2026-07-27 |
| A Study to Investigate the Safety of OpCT-001 in Adults Who Have Primary Photoreceptor Disease (CLARICO) OpCT-001 - Primary Photoreceptor Disease, Retinitis Pigmentosa (RP) | Phase 1 / Phase 2 | Recruiting | BlueRock Therapeutics | 54 | 2025-03-10 | 2026-10-15 |
| Hero: A Study to Evaluate the Safety, Tolerability, and Pharmacokinetics (PK) and Pharmacodynamics (PD) of ION269 in Participants With Down Syndrome (DS) at Risk for Alzheimer's Disease (AD) ION269 - Alzheimer Disease, Down Syndrome | Phase 1 | Terminated | Ionis Pharmaceuticals, Inc. | 1 | 2024-12-20 | 2026-02-20 |
| A Study to Evaluate the Safety, Tolerability, and Effects on Blood and Urine Markers of Single Ascending Dose of GSK4771261 in Healthy Participants and Participants With Autosomal Dominant Polycystic Kidney Disease GSK4771261, Placebo matching GSK4771261 - Kidney Disease | Phase 1 | Active not recruiting | GlaxoSmithKline | 86 | 2024-12-11 | 2026-07-30 |
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Polycystic Kidney, Autosomal Dominant (23) · Down Syndrome (16) · Prader-Willi Syndrome (12) · Netherton Syndrome (9) · von Hippel-Lindau Disease (9) · Angelman Syndrome (8) · Pachyonychia Congenita (6) · Usher Syndromes (6) · Alzheimer Disease (5) · Basal Cell Nevus Syndrome (5) · DiGeorge Syndrome (5) · Intellectual Disability (5) · Carcinoma, Basal Cell (4) · Retinitis Pigmentosa (4) · Thymic aplasia (4)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (117) · Congenital Abnormalities (116) · Genetic Diseases, Inborn (113) · Nervous System Diseases (56) · Chromosome Disorders (42) · Neurologic Manifestations (38) · Ciliopathies (37) · Neurobehavioral Manifestations (30) · Female Urogenital Diseases (29) · Female Urogenital Diseases and Pregnancy Complications (29) · Male Urogenital Diseases (29) · Urogenital Diseases (29) · Urologic Diseases (28) · Kidney Diseases (27)
Oxytocin (4) · Ranibizumab (3) · Hematologic Tests (2) · Midazolam (2) · Pain Measurement (2) · Physical Examination (2) · Sirolimus (2) · Sodium Chloride (2) · Therapeutics (2) · Thymus Extracts (2) · Urinalysis (2) · Vital Signs (2) · XL647 (2) · gusacitinib (2) · 1-phenyl-3,3-dimethyltriazene (1)
Jemincare (6) · Vertex Pharmaceuticals Incorporated (5) · Hoffmann-La Roche (4) · National Eye Institute (NEI) (4) · Sumitomo Pharma Switzerland GmbH (4) · Daiichi Sankyo (3) · ReCode Therapeutics (3) · Regulus Therapeutics Inc. (3) · AC Immune SA (2) · Albireo (2) · Ascend Biopharmaceuticals Ltd (2) · AstraZeneca (2) · Boston Children's Hospital (2) · Ionis Pharmaceuticals, Inc. (2) · National Human Genome Research Institute (NHGRI) (2)
United States (76) · United Kingdom (14) · France (12) · Australia (10) · Spain (7) · Canada (6) · Netherlands (6) · Germany (5) · China (4) · Italy (4) · Israel (3) · New Zealand (2) · Austria (1) · Belgium (1) · Brazil (1)
John Matthews, MBBS, MCRP, PhD (3) · M. Louise Markert, MD, PhD (3) · Rekha Garg, MD (2) · Albert C Yan, MD (1) · Alberto C Costa, MD, PhD (1) · Alexander C Conley, PhD (1) · Allen E. Bale, MD (1) · Amy Paller (1) · Anna Bar (1) · Atieh Makhlough, MD (1) · Benedict Tan, MBBS, FRACP (1)
PMID 18035553, PMID 18424759, PMID 18557726, PMID 19066739, PMID 20236866, PMID 39356039, PMID 15100156, PMID 17284531, PMID 23607606, PMID 14605787, PMID 14662594, PMID 15100681, PMID 18155964, PMID 18333898, PMID 20083693, PMID 20978268, PMID 22590644, PMID 24329107, PMID 24705452, PMID 28100688, PMID 28535817, PMID 28823614, PMID 30803705, PMID 31215818, PMID 32077057, PMID 33232306, PMID 34185708, PMID 34549489, PMID 34649967, PMID 35532913, PMID 35690720, PMID 36947593, PMID 37018064, PMID 37120522, PMID 37418643, PMID 39331470, PMID 40646322, PMID 41348481, PMID 41385299, PMID 41643210, PMID 41701531, PMID 8209913, PMID 9024564, PMID 9024565
K12HD043494 (4), R01AI047040 (4), R01AI054843 (4), 2023 (2), R56AI047040 (2), 2016 (1), 2018 (1), 2019 (1), 2025 (1), R01AG047922 (1), R01HD076189 (1), R21DK113487 (1)