59 completed. 59 Phase 3, 12 Phase 2.
| Phase | Trials | Status |
|---|---|---|
| Phase 3 | 59 | Completed 59 |
| Phase 2 | 12 | Completed 12 |
Follow Abnormalities, Multiple: new trials by email Literature Review of Abnormalities, Multiple trials Research Report on Abnormalities, Multiple
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 |
|---|---|---|---|---|---|---|
| Efficacy and Safety of Patidegib Gel 2% for Preventing Basal Cell Carcinomas on the Face of Adults With Gorlin Syndrome Patidegib Topical Gel, Patidegib Topical Gel with no active patidegib - Gorlin Syndrome | Phase 3 | Completed | Sol-Gel Technologies, Ltd. | 113 | 2024-03-17 | 2026-09-18 |
| Open-Label Extension Study of DCCR in Patients With Prader-Willi Syndrome DCCR - Prader-Willi Syndrome | Phase 3 | Completed | Soleno Therapeutics, Inc. | 77 | 2023-01-31 | 2026-10-13 |
| A Study of TAK-625 for the Treatment of Alagille Syndrome (ALGS) TAK-625 - Alagille Syndrome (ALGS) | Phase 3 | Completed | Takeda | 7 | 2023-01-16 | 2026-01-29 |
| Blood Flow and Blood Pressure Investigation in Down Syndrome Exercise - Down Syndrome | Phase 3 | Completed | University of Illinois at Chicago | 48 | 2022-09-01 | 2024-04-18 |
| Effect of Intranasal Oxytocin on Dysphagia in Children and Adolescents With Prader-Willi Syndrome Oxytocin nasal spray, Placebo - Prader-Willi Syndrome | Phase 2 / Phase 3 | Completed | University Hospital, Toulouse | 25 | 2022-04-05 | 2023-06-01 |
| Setmelanotide in Pediatric Participants With Rare Genetic Diseases of Obesity Setmelanotide - Bardet-Biedl Syndrome, POMC Deficiency Obesity | Phase 3 | Completed | Rhythm Pharmaceuticals, Inc. | 12 | 2022-03-08 | 2024-11-27 |
| Phase 3 Crossover Trial of Two Formulations of Setmelanotide in Participants With Specific Gene Defects in the MC4R Pathway Setmelanotide 2 mg, Setmelanotide 2.5 mg, Setmelanotide 3 mg - Bardet-Biedl Syndrome, POMC Deficiency | Phase 3 | Completed | Rhythm Pharmaceuticals, Inc. | 19 | 2021-12-21 | 2024-11-26 |
| A Multicenter, Phase 3 Randomized, Double-Blind, Vehicle-Controlled Study Evaluating the Safety and Efficacy of QTORIN 3.9% Rapamycin Anhydrous Gel in the Treatment of Pachyonychia Congenita QTORIN 3.9% rapamycin anhydrous gel, Vehicle - Pachyonychia Congenita | Phase 3 | Completed | Palvella Therapeutics, Inc. | 87 | 2021-11-29 | 2024-08-29 |
| Efficacy and Safety of Odevixibat in Patients With Alagille Syndrome Odevixibat, Placebo - Alagille Syndrome | Phase 3 | Completed | Albireo | 52 | 2021-03-19 | 2023-11-02 |
| Study of the Efficacy and Safety of Somatropin in Japanese Participants With PWS somatropin - GH naïve pediatric cohort, somatropin - GH treated cohort, somatropin - adult cohort - Prader-Willi Syndrome | Phase 3 | Completed | Pfizer | 33 | 2021-02-09 | 2026-01-14 |
| VALO-2: Study Evaluating the Safety and Efficacy of PTX022 in the Treatment of Adults With Pachyonychia Congenita PTX-022 - Pachyonychia Congenita | Phase 3 | Completed | Palvella Therapeutics, Inc. | 36 | 2020-09-01 | 2024-08-29 |
| Oxytocin Treatment in Neonates and Infants With Prader-Willi Syndrome OT, Placebo comparator - Prader-Willi Syndrome | Phase 3 | Completed | University Hospital, Toulouse | 52 | 2020-03-10 | 2023-06-01 |
| Phase 2/3 Study Evaluating the Safety and Efficacy of PTX-022 in Treatment of Adults With Pachyonychia Congenita PTX-022, Placebo - Pachyonychia Congenita | Phase 2 / Phase 3 | Completed | Palvella Therapeutics, Inc. | 73 | 2019-04-01 | 2024-08-29 |
| Study of Patidegib Topical Gel, 2%, for the Reduction of Disease Burden of Persistently Developing Basal Cell Carcinomas (BCCs) in Subjects With Basal Cell Nevus Syndrome (Gorlin Syndrome) Patidegib Topical Gel, 2%, Patidegib Topical Gel, Vehicle - Basal Cell Nevus Syndrome | Phase 3 | Completed | Sol-Gel Technologies, Ltd. | 174 | 2019-02-19 | 2024-07-03 |
| Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Participants With Moderate to Severe Obesity Setmelanotide, Placebo - Bardet Biedl Syndrome (BBS), Alström Syndrome (AS) | Phase 3 | Completed | Rhythm Pharmaceuticals, Inc. | 52 | 2018-11-23 | 2023-12-01 |
| Phase 3 Study of Intranasal Carbetocin (LV-101) in Patients With Prader-Willi Syndrome 3.2 mg intranasal carbetocin, 9.6 mg intranasal carbetocin, placebo - Prader-Willi Syndrome | Phase 3 | Completed | Levo Therapeutics, Inc. | 130 | 2018-11-20 | 2022-07-26 |
| Electromyographic Study for the Help and Guidance of BoNTA Administration in the Treatment of Chronic Pelvic Floor Pain Clostridium botulinum type A (BoNTA) - Electromyography, EMG: Myopathy | Phase 3 | Completed | Jose Alberola-Rubio | 25 | 2018-10-29 | 2020-08-11 |
| Open-Label Extension Study of DCCR in PWS Followed by Double-Blind, Placebo-Controlled, Randomized Withdrawal Period DCCR, Placebo for DCCR - Prader-Willi Syndrome | Phase 3 | Completed | Soleno Therapeutics, Inc. | 115 | 2018-10-01 | 2024-04-19 |
| A Study of Diazoxide Choline in Patients With Prader-Willi Syndrome DCCR, Placebo for DCCR - Prader-Willi Syndrome | Phase 3 | Completed | Soleno Therapeutics, Inc. | 127 | 2018-05-09 | 2023-09-21 |
| A Trial to Evaluate Safety, Tolerability and Efficacy of Elamipretide in Subjects With Barth Syndrome Elamipretide, Placebo - Barth Syndrome | Phase 2 / Phase 3 | Completed | Stealth BioTherapeutics Inc. | 12 | 2017-07-05 | 2024-04-16 |
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Polycystic Kidney, Autosomal Dominant (21) · Prader-Willi Syndrome (10) · Down Syndrome (5) · Marfan Syndrome (5) · Polycystic Kidney Diseases (4) · Bardet-Biedl Syndrome (3) · Hypertension (3) · Pachyonychia Congenita (3) · Alagille Syndrome (2) · Angelman Syndrome (2) · Basal Cell Nevus Syndrome (2) · Beckwith-Wiedemann Syndrome (2) · Cysts (2) · Disease (2) · Familial paroxysmal dystonia (2)
Congenital Abnormalities (59) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (59) · Genetic Diseases, Inborn (59) · Female Urogenital Diseases (25) · Female Urogenital Diseases and Pregnancy Complications (25) · Male Urogenital Diseases (25) · Urogenital Diseases (25) · Ciliopathies (24) · Urologic Diseases (24) · Kidney Diseases (23) · Nervous System Diseases (23) · Chromosome Disorders (20) · Kidney Diseases, Cystic (20) · Neurologic Manifestations (19)
Tolvaptan (7) · Atenolol (3) · Leucovorin (3) · Losartan (3) · Oxytocin (3) · setmelanotide (3) · Angiotensin-Converting Enzyme Inhibitors (2) · Doxorubicin (2) · Lisinopril (2) · Saline Solution (2) · Sugars (2) · Telmisartan (2) · Vincristine (2) · lanreotide (2) · Betaine (1)
Otsuka Pharmaceutical Development & Commercialization, Inc. (5) · Palvella Therapeutics, Inc. (3) · Rhythm Pharmaceuticals, Inc. (3) · Soleno Therapeutics, Inc. (3) · University Hospital, Toulouse (3) · Assistance Publique - Hôpitaux de Paris (2) · Children's Oncology Group (2) · Federico II University (2) · Institut Jerome Lejeune (2) · Mario Negri Institute for Pharmacological Research (2) · National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) (2) · Sol-Gel Technologies, Ltd. (2) · University of Colorado, Denver (2) · Albireo (1) · Bayside Health (1)
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PMID 39356039, PMID 36191725, PMID 37250503, PMID 31014270, PMID 37349694, PMID 37919617, PMID 38671361, PMID 16221708, PMID 17868472, PMID 17911499, PMID 19525519, PMID 20084109, PMID 20581391, 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 26166166, PMID 26844873, PMID 26994593, PMID 28379536, PMID 28644367, PMID 29096777, PMID 29105594, PMID 29439650, PMID 29948025, PMID 30803434, PMID 30803706, PMID 30951521, PMID 31281181, PMID 31511031, PMID 31982581, PMID 33232306, PMID 33376102, PMID 33411585, PMID 33888577, PMID 34013094, PMID 34117082, PMID 34604341, PMID 34863019, PMID 35072864
U01DK062401 (2), U01DK082230 (2), U10CA098543 (2), U10CA180886 (2), 2005 (1), 2016 (1), 2018 (1), 2023 (1), 2025 (1), R01AG016381 (1), R01DK058793 (1), R01DK097081 (1), U01HL068270 (1), UL1RR024150 (1)