39 completed, 16 terminated, 12 recruiting, 10 active not recruiting. 85 Phase 3, 17 Phase 2.
Follow Chromosome Disorders: new trials by email Literature Review of Chromosome Disorders trials Research Report on Chromosome Disorders
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 |
|---|---|---|---|---|---|---|
| A Study to Investigate the Effects and Safety of Codabakalner for the Treatment of FXS in Male Participants and Adult Participants With ADS Codabakalner, Placebo - Fragile X Syndrome (FXS), Autism Spectrum Disorder (ASD) | Phase 2 / Phase 3 | Not yet recruiting | Spinogenix | 120 | 2026-12-01 | 2026-10-09 |
| 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 |
| The Efficacy and Safety of Inpegsomatropin Injection in Children With Turner Syndrome (TS) and Short Stature Inpegsomatropin-Injection, Givopegsomatropin Solution Injection - Turner Syndrome | Phase 3 | Recruiting | Xiamen Amoytop Biotech Co., Ltd. | 84 | 2026-07-05 | 2026-07-22 |
| 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 | 2026-10-20 |
| 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 |
| 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 |
| Trial Investigating the Efficacy and Safety of Weekly Lonapegsomatropin Compared to Daily Somatropin in Children and Adolescents With Short Stature or Growth Failure Due to Growth Hormone Sufficient Disorders Lonapegsomatropin [SKYTROFA®], Somatropin Pen Injector - Turner Syndrome, Short Stature Homeobox Gene Mutation | Phase 3 | Recruiting | Ascendis Pharma A/S | 186 | 2025-12-12 | 2026-09-30 |
| 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 | Active not recruiting | Ultragenyx Pharmaceutical Inc | 129 | 2024-12-03 | 2026-08-06 |
| Long-term Extension of GTX-102 in Angelman Syndrome GTX-102 - Angelman Syndrome | Phase 3 | Active not recruiting | Ultragenyx Pharmaceutical Inc | 255 | 2024-07-31 | 2026-09-09 |
| 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 Pitolisant in Patients With Prader-Willi Syndrome Pitolisant tablet, Placebo tablet - Prader-Willi Syndrome | Phase 3 | Recruiting | Harmony Biosciences Management, Inc. | 134 | 2024-05-28 | 2026-08-25 |
| Cornelia De Lange Syndrome: Assessing Positive Effects of Lithium Treatment Lithium Carbonate Capsule - Cornelia De Lange Syndrome | Phase 2 / Phase 3 | Recruiting | University of Milan | 34 | 2024-05-01 | 2025-01-28 |
| A Clinical Evaluation of Non-Invasive Vagus Nerve Stimulation for Temper Outbursts in People With PWS tVNS, intermittent stimulation, tVNS, continuous stimulation - Prader-Willi Syndrome | Phase 3 | Active not recruiting | Foundation for Prader-Willi Research | 102 | 2024-01-08 | 2026-04-06 |
| LIFE-DSR-Biomarker Sub-study of Biomarkers in Down Syndrome Related Alzheimer's Disease (DS-AD) [18F]MK-6240 - Down Syndrome | Phase 3 | Terminated | LuMind IDSC Foundation | 5 | 2023-06-27 | 2025-03-06 |
| Sex Steroids Balance for Metabolic and Reproductive Health in Klinefelter Syndrome Anastrozole, Semaglutide, human chorionic gonadotropin - Klinefelter Syndrome | Phase 3 | Recruiting | Georgios Papadakis | 150 | 2023-03-21 | 2026-05-11 |
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Prader-Willi Syndrome (25) · Down Syndrome (17) · Turner Syndrome (14) · Fragile X Syndrome (13) · Angelman Syndrome (8) · Hyperphagia (5) · Alzheimer Disease (4) · Cognitive Dysfunction (4) · Dwarfism (4) · Genetic Diseases, Inborn (4) · Autism Spectrum Disorder (3) · Infertility (3) · Noonan Syndrome (3) · Beckwith-Wiedemann Syndrome (2)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (85) · Congenital Abnormalities (84) · Genetic Diseases, Inborn (81) · Nervous System Diseases (65) · Neurologic Manifestations (58) · Abnormalities, Multiple (56) · Intellectual Disability (55) · Neurobehavioral Manifestations (55) · Imprinting Disorders (35) · Sex Chromosome Disorders (27) · Nutritional and Metabolic Diseases (26) · Nutrition Disorders (25) · Overnutrition (25) · Overweight (25)
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Novo Nordisk A/S (5) · Soleno Therapeutics, Inc. (4) · University Hospital, Toulouse (4) · Children's Oncology Group (3) · Harmony Biosciences Management, Inc. (3) · Seaside Therapeutics, Inc. (3) · Tetra Discovery Partners (3) · Aardvark Therapeutics, Inc. (2) · Eisai Inc. (2) · Eli Lilly and Company (2) · Institut Jerome Lejeune (2) · Ionis Pharmaceuticals, Inc. (2) · New York State Institute for Basic Research (2) · Radius Pharmaceuticals, Inc. (2) · Ultragenyx Pharmaceutical Inc (2)
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PMID 33395098, PMID 37919617, PMID 38671361, PMID 15784709, PMID 16757526, PMID 20084109, PMID 20733274, PMID 20965292, PMID 21619701, PMID 26855682, PMID 26994593, PMID 28556449, PMID 29096777, PMID 31281181, PMID 31511031, PMID 31532522, PMID 31982581, PMID 33232306, PMID 33411585, PMID 33844429, PMID 34863019, PMID 34893062, PMID 35072864, PMID 36048943, PMID 36434514, PMID 36633570, PMID 36639249, PMID 37890117, PMID 39121442, PMID 39625363, PMID 39651791, PMID 40315406, PMID 40436776, PMID 40588365, PMID 41124669, PMID 41254489, PMID 41712606, PMID 41774755, PMID 42486751
U10CA180886 (4), R01AG016381 (2), U10CA098543 (2), 2004 (1), 2025 (1), T32AG000279 (1)