59 completed, 33 terminated, 20 recruiting, 12 unknown. 139 Phase 3, 34 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 |
|---|---|---|---|---|---|---|
| 24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome N-acetylcysteine amide, Placebo - Retinitis Pigmentosa (RP), Usher Syndrome | Phase 3 | Not yet recruiting | Nacuity Pharmaceuticals, Inc. | 80 | 2026-12-01 | 2026-07-01 |
| A 24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome Placebo, NPI-001 - Retinitis Pigmentosa (RP), Usher Syndrome | Phase 3 | Recruiting | Nacuity Pharmaceuticals, Inc. | 80 | 2026-10-23 | 2026-11-10 |
| CHAMPION: A Study to Evaluate the Efficacy and Safety of Obudanersen (ION582) in Children and Adults With Angelman Syndrome (AS) obudanersen - Angelman Syndrome | Phase 3 | Recruiting | Ionis Pharmaceuticals, Inc. | 30 | 2026-09-30 | 2026-10-20 |
| BEACON - Phase III Clinical Study of Rugonersen in Angelman Syndrome. rugonersen, Sham procedure - Angelman Syndrome | Phase 3 | Recruiting | OHB Pediatrics Ltd. | 165 | 2026-06-23 | 2026-11-06 |
| Exploring Sympathetic Nervous System Function in Individuals With Down Syndrome Cold Stress, Maximal Dynamic Exercise, Isometric Handgrip Exercise with Post-Exercise Muscle Ischemia - Down Syndrome, Autonomic Dysfunction | Phase 3 | Recruiting | University of Colorado, Denver | 200 | 2026-04-06 | 2026-10-13 |
| Extension Study for Participants in Studies That Include Belzutifan (MK-6482-043/LITESPARK-043) Belzutifan, Nivolumab, Lenvatinib - Von Hippel-Lindau Disease, Malignant Neoplasms | Phase 3 | Recruiting | Merck Sharp & Dohme LLC | 450 | 2026-03-23 | 2026-10-21 |
| Phase 2/3 Clinical Study of QRX003 Lotion in Subjects With Netherton Syndrome QRX003 - Netherton Syndrome | Phase 2 / Phase 3 | Recruiting | Quoin Pharmaceuticals | 16 | 2026-03-19 | 2026-09-28 |
| LEvetiracetam to Prevent Seizures in Symptomatic Alzheimer's Disease in Adults With Down Syndrome Levetiracetam 500mg, Placebo - Down Syndrome, Down Syndrome (DS) | Phase 3 | Recruiting | Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau | 120 | 2025-12-22 | 2026-01-12 |
| STOP-PKD: SGLT2-inhibition to Improve Prognosis in Polycystic Kidney Disease Dapagliflozin 10 mg, Matching Placebo - Polycystic Kidney, Autosomal Dominant | Phase 3 | Recruiting | University of Cologne | 420 | 2025-12-16 | 2026-07-28 |
| Clinical Study of QRX003 Lotion in Subjects With Netherton Syndrome QRX003, 4% Lotion - Netherton Syndrome | Phase 2 / Phase 3 | Recruiting | Quoin Pharmaceuticals | 8 | 2025-10-06 | 2026-08-31 |
| A Study of Pitolisant in Participants With Prader-Willi Syndrome Pitolisant - Prader-Willi Syndrome | Phase 3 | Enrolling by invitation | Harmony Biosciences Management, Inc. | 150 | 2025-08-20 | 2026-03-17 |
| Compassionate Use Study of Epi-ON Corneal Collagen Crosslinking Performed Using UVA Exposure on Eyes With Ectatic Corneal Diseases for Subjects With Down Syndrome Epi-ON corneal cross-linking (CXL) - Down Syndrome (DS), Keratoconus | Phase 3 | Recruiting | Woolfson Eye Institute | 225 | 2025-08-01 | 2026-02-02 |
| The Efficacy of Therapy in Patients With Acute Myeloid Leukemia and Down Syndrome in Russia 4 chemotherapy blocks: Course 1 AIE (cytarabine/idarubicin/etoposide), Course 2 AI (cytarabine/idarubicin), Course 3 HAD (high-dose cytarabine (1g)/daunorubicin), Course 4 HA (high-dose cytarabine). - AML (Acute Myelogenous Leukemia), Down Syndrome (DS) | Phase 3 | Recruiting | Federal Research Institute of Pediatric Hematology, Oncology and Immunology | 100 | 2025-07-24 | 2025-11-20 |
| REVEAL: A Phase 3 Study of Obudanersen (ION582) in Angelman Syndrome obudanersen, Placebo - Angelman Syndrome | Phase 3 | Active not recruiting | Ionis Pharmaceuticals, Inc. | 156 | 2025-06-10 | 2026-09-29 |
| ARD-101 for Treatment of PWS: The Hunger Elimination or Reduction Objective Trial Placebo, ARD-101 - Hyperphagia, Prader-Willi Syndrome | Phase 3 | Terminated | Aardvark Therapeutics, Inc. | 68 | 2024-12-20 | 2026-06-30 |
| Phase 3 Efficacy and Safety Study of GTX-102 in Pediatric Subjects With Angelman Syndrome (AS) GTX-102, Sham-LP - Angelman Syndrome | Phase 3 | Terminated | Ultragenyx Pharmaceutical Inc | 129 | 2024-12-03 | 2026-11-03 |
| HYDROchlorothiazide to PROTECT Polycystic Kidney Disease Patients and Improve Their Quality of Life Hydrochlorothiazide 25 mg, Placebo - ADPKD | Phase 3 | Recruiting | University Medical Center Groningen | 300 | 2024-07-31 | 2026-08-25 |
| Long-term Extension of GTX-102 in Angelman Syndrome GTX-102 - Angelman Syndrome | Phase 3 | Terminated | Ultragenyx Pharmaceutical Inc | 66 | 2024-07-31 | 2026-11-03 |
| The Hunger Elimination or Reduction Objective (HERO ) Open -Label Extension (OLE) Trial ARD-101 - Hyperphagia, Prader-Willi Syndrome | Phase 3 | Terminated | Aardvark Therapeutics, Inc. | 19 | 2024-07-23 | 2026-06-30 |
| A Study of Mavorixafor in Participants With Congenital and Acquired Primary Autoimmune and Idiopathic Chronic Neutropenic Disorders Who Are Experiencing Recurrent and/or Serious Infections Mavorixafor, Placebo - Neutropenia | Phase 3 | Recruiting | X4 Pharmaceuticals | 176 | 2024-06-06 | 2026-11-12 |
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Polycystic Kidney, Autosomal Dominant (38) · Prader-Willi Syndrome (25) · Down Syndrome (17) · Polycystic Kidney Diseases (12) · Marfan Syndrome (9) · Angelman Syndrome (8) · Hyperphagia (6) · Netherton Syndrome (6) · Basal Cell Nevus Syndrome (5) · Polycystic liver disease (5) · Retinitis Pigmentosa (5) · Usher Syndromes (5) · Alzheimer Disease (4) · Carcinoma, Basal Cell (4) · Cognitive Dysfunction (4)
Congenital Abnormalities (139) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (139) · Genetic Diseases, Inborn (139) · Nervous System Diseases (65) · Chromosome Disorders (56) · Neurologic Manifestations (52) · Ciliopathies (47) · Female Urogenital Diseases and Pregnancy Complications (47) · Urogenital Diseases (47) · Female Urogenital Diseases (46) · Male Urogenital Diseases (46) · Urologic Diseases (45) · Intellectual Disability (44) · Kidney Diseases (44)
Tolvaptan (10) · Losartan (6) · Sirolimus (5) · Atenolol (4) · Cytarabine (4) · Leucovorin (4) · lanreotide (4) · Doxorubicin (3) · Oxytocin (3) · Saline Solution (3) · Thioguanine (3) · Vincristine (3) · lixivaptan (3) · setmelanotide (3) · Angiotensin-Converting Enzyme Inhibitors (2)
Otsuka Pharmaceutical Development & Commercialization, Inc. (7) · University Hospital, Toulouse (5) · Assistance Publique - Hôpitaux de Paris (4) · Palvella Therapeutics, Inc. (4) · Quoin Pharmaceuticals (4) · Soleno Therapeutics, Inc. (4) · Children's Oncology Group (3) · Mario Negri Institute for Pharmacological Research (3) · Palladio Biosciences (3) · Rhythm Pharmaceuticals, Inc. (3) · Sol-Gel Technologies, Ltd. (3) · University of Colorado, Denver (3) · Aardvark Therapeutics, Inc. (2) · Biogen (2) · Eisai Inc. (2)
United States (82) · United Kingdom (39) · France (31) · Canada (28) · Germany (27) · Australia (25) · Italy (25) · Spain (25) · Belgium (24) · Netherlands (23) · Poland (13) · Israel (11) · Japan (11) · Denmark (9) · South Korea (9)
David Meeker, MD (3) · Arlene Chapman, M.D. (2) · David Hansen, MD (2) · Frederik Nevens, MD, PhD (2) · Joyce Teng, MD (2) · Loes van Keimpema, MSc (2) · Marva Moxey-Mims, M.D. (2) · Robert Schrier, M.D. (2) · Ronald Perrone, M.D. (2) · Thomas McRae, MD (2) · Tony Andrasfay (2)
PMID 39356039, PMID 36191725, PMID 37250503, PMID 31014270, PMID 17911499, PMID 37349694, PMID 37919617, PMID 38671361, PMID 38837240, PMID 16221708, PMID 16601194, PMID 17188619, PMID 17868472, PMID 19430350, PMID 19525519, PMID 20084109, PMID 20581391, PMID 20619242, PMID 20965292, PMID 21757630, PMID 22205355, PMID 22417271, PMID 22773240, PMID 23071528, PMID 23622922, PMID 23972263, PMID 24470398, PMID 25111236, PMID 25399731, PMID 25399733, PMID 25405392, PMID 25663351, PMID 25899445, PMID 25935877, PMID 26052700, PMID 26166166, PMID 26844873, PMID 26912555, PMID 26994593, PMID 27995519, PMID 28379536, PMID 28556449, PMID 28644367, PMID 29096777, PMID 29105594, PMID 29439650, PMID 29948025, PMID 30422235, PMID 30803434, PMID 30803706
U10CA180886 (4), 2023 (3), 2025 (3), 2018 (2), R01AG016381 (2), U01DK062401 (2), U01DK082230 (2), U10CA098543 (2), 1UG1EY033293 (1), 2005 (1), 2016 (1), 2017 (1), R01DK058793 (1), R01DK097081 (1), T32AG000279 (1)