16 completed, 6 recruiting, 3 terminated, 3 unknown. 32 Phase 4.
| Phase | Trials | Status |
|---|---|---|
| Phase 4 | 32 | Completed 16, Recruiting 6, Terminated 3, Unknown 3, Active not recruiting 2, Not yet recruiting 1, Withdrawn 1 |
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 |
|---|---|---|---|---|---|---|
| Amyloid Lowering for Alzheimer's in Down's With Donanemab Investigation Donanemab, Placebo - Down Syndrome (DS), Down Syndrome (Trisomy 21) | Phase 4 | Not yet recruiting | Michael Rafii, MD, PhD | 60 | 2026-08-01 | 2026-05-15 |
| Clinical Trial in Patients With Barth Syndrome- 4TAZPower Elamipretide, Placebo - Barth Syndrome | Phase 4 | Recruiting | Stealth BioTherapeutics Inc. | 48 | 2026-07-02 | 2026-11-09 |
| Endotype DIrected Treatment for OSA in Down Syndrome ato-oxy, Oxygen - Obstructive Sleep Apnea (OSA), Down Syndrome | Phase 4 | Recruiting | University of Arizona | 200 | 2026-03-14 | 2026-09-03 |
| Long-Term Low-Intervention SafEty and Clinical Outcomes Clinical Study of LivmArli® in Patients With Alagille Syndrome or Progressive Familial Intrahepatic Cholestasis in the European Union (LEAP-EU) Livmarli Oral Product - Alagille Syndrome, Progressive Familial Intrahepatic Cholestasis | Phase 4 | Recruiting | Mirum Pharmaceuticals, Inc. | 230 | 2025-09-25 | 2026-06-23 |
| Tirzepatide in PWS, HO and GNSO Tirzepatide - Prader-Willi Syndrome, Hypothalamic Obesity | Phase 4 | Recruiting | Grace Kim | 36 | 2025-05-01 | 2025-09-16 |
| Study of Empagliflozin in Patients With Autosomal Dominant Polycystic Kidney Disease (EMPA-PKD) Empagliflozin 10 MG, Placebo - Autosomal Dominant Polycystic Kidney | Phase 4 | Active not recruiting | Hannover Medical School | 44 | 2024-06-14 | 2025-11-24 |
| Real-World Effects of MC4R Agonist Therapy in BBS and Severe Genetic Obesity Setmelanotide - Bardet Biedl Syndrome (BBS), Bardet Biedl Syndrome | Phase 4 | Recruiting | Tom Hühne | 200 | 2023-01-01 | 2026-06-29 |
| Fluoxetine Treatment of Depression in Down Syndrome Fluoxetine - Down Syndrome, Depression | Phase 4 | Completed | Massachusetts General Hospital | 4 | 2022-12-05 | 2025-03-30 |
| Atorvastatin Therapy on Xanthoma in Alagille Syndrome atorvastatin - Alagille Syndrome, Atorvastatin | Phase 4 | Completed | Children's Hospital of Fudan University | 15 | 2022-03-22 | 2026-03-27 |
| Treatment of Vascular Stiffness in ADPKD Sodium chloride (NaCl), Placebo, Amiloride Hcl 5mg Tab - Autosomal Dominant Polycystic Kidney | Phase 4 | Completed | Erasmus Medical Center | 46 | 2022-03-11 | 2025-08-17 |
| Scientific Substantiation and Assessment of the Effectiveness of Pathogenetic Methods of Therapy for Congenital Ichthyosis in Children Secukinumab Injection, Ustekinumab Injection, Dupilumab Injection - Congenital Ichthyosis | Phase 4 | Unknown | National Medical Research Center for Children's Health, Russian Federation | 50 | 2021-03-01 | 2021-08-09 |
| Use of Liquid Stable Levothyroxine in Trisomy 21 Pediatric Patients Liquid stable levothyroxine (L-T4) Tirosint-SOL, Oral tablet levothyroxine (L-T4) - Hypothyroidism, Trisomy 21 | Phase 4 | Terminated | Children's Mercy Hospital Kansas City | 6 | 2021-01-18 | 2023-09-13 |
| Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome Guanfacine Extended Release, Placebo - Prader-Willi Syndrome, Aggression | Phase 4 | Completed | Maimonides Medical Center | 15 | 2020-12-17 | 2024-08-19 |
| Evaluating Treatment of ADHD in Children With Down Syndrome Quillivant XR, Placebo - Down Syndrome, ADHD | Phase 4 | Completed | Children's Hospital Medical Center, Cincinnati | 44 | 2020-10-02 | 2026-11-02 |
| A Trial to Assess the Safety and Efficacy of KRN23 in Epidermal Nevus Syndrome (ENS) Crysvita (burosumab-twza) Treatment - Epidermal Nevus Syndrome | Phase 4 | Completed | University of Alabama at Birmingham | 1 | 2020-07-31 | 2022-10-07 |
| Dose Clinical Trial of Guanfacine Extended Release for the Reduction of Aggression and Self-injuries Behavior Associated With Prader-Willi Syndrome Placebo, Guanfacine extended release (GXR) - Prader-Willi Syndrome | Phase 4 | Withdrawn | NYU Langone Health | 2019-12-01 | 2020-08-26 | |
| Evaluating the Safety and effectivenesS in Adult KorEaN Patients Treated With Tolvaptan for Management of Autosomal domInAnt poLycystic Kidney Disease Tolvaptan - Autosomal Dominant Polycystic Kidney Disease (ADPKD) | Phase 4 | Completed | Korea Otsuka Pharmaceutical Co., Ltd. | 118 | 2019-07-01 | 2022-06-16 |
| Subacute Effect of Tolvaptan on Total Kidney Volume in Adult Patients With Autosomal Dominant Polycystic Kidney Disease Tolvaptan - Autosomal Dominant Polycystic Kidney | Phase 4 | Unknown | Lisbet Brandi | 90 | 2018-09-12 | 2018-11-26 |
| Statin Therapy in Patients With Early Stage ADPKD Pravastatin, Placebo - ADPKD, Autosomal Dominant Polycystic Kidney | Phase 4 | Active not recruiting | University of Colorado, Denver | 150 | 2017-08-31 | 2025-05-08 |
| GH in Adults With PWS, Effect on Hypotonia Evaluated by Functional MRI, Relationship With Strength and Body Composition Growth hormone, Placebo - Prader-Willi Syndrome | Phase 4 | Completed | Corporacion Parc Tauli | 30 | 2017-06-19 | 2021-01-27 |
Showing 20 of 32. Sign in to see all of them.
Polycystic Kidney, Autosomal Dominant (8) · Prader-Willi Syndrome (7) · Down Syndrome (6) · Alagille Syndrome (2) · Hypertension (2) · Obesity (2) · Afibrinogenemia (1) · Aggression (1) · Alstrom Syndrome (1) · Alzheimer Disease (1) · Attention Deficit Disorder with Hyperactivity (1) · Bardet-Biedl Syndrome (1) · Barth Syndrome (1) · Behavioral Symptoms (1)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (32) · Congenital Abnormalities (31) · Genetic Diseases, Inborn (29) · Nervous System Diseases (16) · Chromosome Disorders (14) · Intellectual Disability (14) · Neurobehavioral Manifestations (14) · Neurologic Manifestations (14) · Ciliopathies (9) · Female Urogenital Diseases (9) · Female Urogenital Diseases and Pregnancy Complications (9) · Male Urogenital Diseases (9) · Nutritional and Metabolic Diseases (9) · Urogenital Diseases (9)
Fluoxetine (2) · Growth Hormone (2) · Methylphenidate (2) · Sodium Chloride (2) · Tolvaptan (2) · Absorptiometry, Photon (1) · Aging (1) · Amiloride (1) · Atenolol (1) · Atomoxetine Hydrochloride (1) · Atorvastatin (1) · Azithromycin (1) · Biopsy (1) · Curcumin (1) · Everolimus (1)
University of Colorado, Denver (3) · CPL Associates (1) · Cardiff University (1) · Centers for Disease Control and Prevention (1) · Children's Hospital Medical Center, Cincinnati (1) · Children's Hospital of Fudan University (1) · Children's Mercy Hospital Kansas City (1) · Corporacion Parc Tauli (1) · Erasmus Medical Center (1) · Grace Kim (1) · Hannover Medical School (1) · Korea Otsuka Pharmaceutical Co., Ltd. (1) · Kyorin University (1) · Lisbet Brandi (1) · Maimonides Medical Center (1)
United States (14) · Germany (4) · Canada (3) · France (3) · Netherlands (2) · Spain (2) · United Kingdom (2) · Australia (1) · Austria (1) · Bangladesh (1) · Belgium (1) · China (1) · Denmark (1) · Greece (1) · Israel (1)
Deepan Singh, MD (2) · Alberto Costa, MD, Ph.D (1) · Anna Esbensen, PhD (1) · Benjamin Handen, MD (1) · Christopher Tirotta, MD (1) · Daniel Combs, MD (1) · Edward Goldson, MD (1) · Eiji Higashihara, M.D. (1) · Hussein Abdul-Latif, MD (1) · Jason Kong, MD, FRCPC (1) · Jerome J Schentag, Pharm.D. (1) · Joseph Paladino, Pharm.D. (1) · K. Zaman, MD (1) · Kathleen Angkustsiri, MD (1) · Kristen L Nowak, Ph.D. (1)
PMID 39356039, PMID 18372389, PMID 20581392, PMID 22806212, PMID 24406482, PMID 24916642, PMID 34040195, PMID 34907021, PMID 35305111, PMID 35899095, PMID 38151173, PMID 38561465, PMID 39675824, PMID 40179934, PMID 40377984, PMID 40903014, PMID 41077128
2005 (1), 2017 (1), 2023 (1), R33AG066543 (1)