95 completed, 18 recruiting, 11 active not recruiting, 11 terminated. 161 Phase 2, 19 Phase 1, 17 Phase 3.
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 |
| Use of N-Acetylcysteine in the Treatment of Repetitive and Self-Injurious Behaviors in Cornelia de Lange Syndrome N-acetyl cysteine, Placebo - Cornelia de Lange Syndrome | Phase 2 | Not yet recruiting | Johns Hopkins University | 10 | 2026-11-01 | 2026-08-14 |
| An Open-Label Phase II Feasibility Study for the Use of Ublituximab in Adults With Down Syndrome Regression Disorder Ublituximab - Down Syndrome Regression Disorder (DSRD), Down Syndrome (Trisomy 21) | Phase 2 | Not yet recruiting | Jonathan Santoro | 20 | 2026-10-01 | 2026-09-23 |
| Pre-pubertal Low Dose Transdermal Estradiol in Turner Syndrome Estradiol transdermal patch 0.025mg/24 hours- 1/8th fractionated patch - Turner Syndrome, Primary Ovarian Insufficiency | Phase 2 | Not yet recruiting | Children's National Research Institute | 15 | 2026-09-01 | 2026-08-25 |
| A Study to Evaluate Mivelsiran in Adult Participants With Early-Stage Down Syndrome-Associated Alzheimer's Disease (DS-AD) Mivelsiran, Placebo - Down Syndrome-Associated Alzheimer's Disease (DS-AD) | Phase 2 | Recruiting | Alnylam Pharmaceuticals | 58 | 2026-08-17 | 2026-10-13 |
| Metric-Optimized Spectacle Prescriptions for Children With Down Syndrome Metric-optimized spectacles, Routine Clinical Spectacles - Refractive Error Correction, Visual Acuity | Phase 2 | Recruiting | Ohio State University | 24 | 2026-07-13 | 2026-07-20 |
| Modulation of the Immune System in Down Syndrome for Improved Outcomes and Neurodevelopment - 1 Tofacitinib Oral Solution, Placebo - Down Syndrome | Phase 2 | Recruiting | University of Colorado, Denver | 92 | 2026-05-28 | 2026-09-03 |
| Safety, Tolerability, and Preliminary Effectiveness of CTH120 in Fragile X Syndrome CTH120, CTH120 placebo hard capsules - Fragile X Syndrome (FXS), Fragile X Syndrome | Phase 2 | Recruiting | Connecta Therapeutics, S.L. | 30 | 2026-05-21 | 2026-07-17 |
| A Study of CSTI-500 in Patients With Prader-Willi Syndrome CSTI-500 - Prader-Willi Syndrome | Phase 2 | Recruiting | ConSynance Therapeutics | 12 | 2026-05-18 | 2026-10-21 |
| Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD) Hematopoietic stem cell transplant (HSCT) - Common Variable Immunodeficiency (CVID), Primary Immune Regulatory Disorder | Phase 2 | Recruiting | Paul Szabolcs | 25 | 2026-05-04 | 2026-05-15 |
| Inhibition of Aggressive Behavior in Participants With Fragile X Syndrome SRX246, Placebo - Aggressive Behavior in Fragile X Syndome | Phase 2 | Not yet recruiting | Azevan Pharmaceuticals | 80 | 2026-03-01 | 2026-01-09 |
| A Study Comparing Different Treatment Approaches for the Initiation of Puberty in Girls With Turner Syndrome Using a TRIFECTA-DARED Approach for Rare Diseases Oral estradiol valerate, Transdermal 17β estradiol - Turner Syndrome | Phase 2 | Not yet recruiting | Universiti Kebangsaan Malaysia Medical Centre | 24 | 2026-02-15 | 2026-02-02 |
| Treatment of Atopic Dermatitis and Alopecia Areata With Abrocitinib in Individuals With Down Syndrome Abrocitinib - Atopic Dermatitis, Alopecia Areata | Phase 2 | Recruiting | Icahn School of Medicine at Mount Sinai | 56 | 2026-01-12 | 2026-10-16 |
| A 2-Part Study to Assess Efficacy, Safety and Tolerability of BMB-101 for the Treatment of Patients With Prader-Willi Syndrome. BMB-101, Placebo - Prader-Willi Syndrome | Phase 2 | Not yet recruiting | Bright Minds Biosciences Pty Ltd | 16 | 2026-01-01 | 2025-12-05 |
| AEF0217 in Participants With Down Syndrome AEF0217 100 µg, AEF0217 300 µg, Placebo - Down Syndrome (Trisomy 21) | Phase 2 | Recruiting | Aelis Farma | 188 | 2025-12-22 | 2026-04-08 |
| Study of MRM-3379 in Male Participants With Fragile X Syndrome (BLOOM) Low dose of MRM-3379, Middle Dose of MRM-3379, High dose of MRM-3379 - Fragile X Syndrome | Phase 2 | Recruiting | Mirum Pharmaceuticals, Inc. | 60 | 2025-11-22 | 2026-09-29 |
| 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 |
| A Safety and Efficacy Study of GTX-102 in Subjects With Deletion- or Nondeletion-type Angelman Syndrome (AS) No intervention, GTX-102 - Angelman Syndrome | Phase 2 | Active not recruiting | Ultragenyx Pharmaceutical Inc | 60 | 2025-10-13 | 2026-09-09 |
| Effect of CANnabidiol on Anxiety and GABAergic Function in Individuals With Fragile-X Syndrome CBD Oral Solution, Placebo - Fragile X Syndrome | Phase 2 | Recruiting | Université de Sherbrooke | 40 | 2025-09-01 | 2026-08-28 |
| Effect of CBD on the Brain CBD Oral Solution (eCBD system Target), Placebo - Fragile X Syndrome | Phase 2 | Not yet recruiting | Université de Sherbrooke | 50 | 2025-05-01 | 2025-02-17 |
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Fragile X Syndrome (48) · Down Syndrome (39) · Prader-Willi Syndrome (31) · Turner Syndrome (11) · Angelman Syndrome (10) · Autistic Disorder (9) · DiGeorge Syndrome (9) · Genetic Diseases, Inborn (7) · Obesity (7) · Cognitive Dysfunction (6) · Hyperphagia (6) · Alzheimer Disease (5) · Autism Spectrum Disorder (5) · Intellectual Disability (5) · Anxiety Disorders (4)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (161) · Congenital Abnormalities (158) · Genetic Diseases, Inborn (154) · Nervous System Diseases (134) · Neurologic Manifestations (126) · Neurobehavioral Manifestations (122) · Intellectual Disability (121) · Abnormalities, Multiple (96) · Sex Chromosome Disorders (60) · Heredodegenerative Disorders, Nervous System (49) · Genetic Diseases, X-Linked (48) · X-Linked Intellectual Disability (47) · Imprinting Disorders (41) · Nutritional and Metabolic Diseases (38)
Oxytocin (8) · mavoglurant (5) · Metformin (4) · gaboxadol (4) · 2-chloro-4-(1-(4-fluorophenyl)-2,5-dimethyl-1H-imidazol-4-ylethynyl)pyridine (3) · Donepezil (3) · Human Growth Hormone (3) · epigallocatechin gallate (3) · setmelanotide (3) · tofacitinib (3) · Atomoxetine Hydrochloride (2) · BPN14770 (2) · Cannabidiol (2) · Cytarabine (2) · Drug Implants (2)
Hoffmann-La Roche (6) · University Hospital, Toulouse (5) · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (4) · Novartis Pharmaceuticals (4) · Rhythm Pharmaceuticals, Inc. (4) · Stanford University (4) · University of Colorado, Denver (4) · Université de Sherbrooke (4) · Neuren Pharmaceuticals Limited (3) · Parc de Salut Mar (3) · Radius Pharmaceuticals, Inc. (3) · Seaside Therapeutics, Inc. (3) · Sumitomo Pharma Switzerland GmbH (3) · AC Immune SA (2) · Aelis Farma (2)
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Elizabeth Berry-Kravis, MD, PhD (4) · Eric Hollander, MD (3) · Joaquin Espinosa, PhD (3) · M. Louise Markert, MD, PhD (3) · Ahmed Elkashef, MD (2) · Alexander Kolevzon, MD (2) · Allan L Reiss (2) · Craig A. Erickson, M.D. (2) · Craig Erickson, MD (2) · David Meeker (2) · David Meeker, MD (2) · Jennifer Miller, MD (2)
PMID 18035553, PMID 18424759, PMID 18557726, PMID 19066739, PMID 20236866, PMID 17284531, PMID 26764156, PMID 26855682, PMID 33395098, PMID 12702512, PMID 18155964, PMID 20084109, PMID 20978268, PMID 21209411, PMID 21449786, PMID 21565561, PMID 21702900, PMID 21862226, PMID 23607606, PMID 23914737, PMID 24762109, PMID 25187257, PMID 26994593, PMID 27302362, PMID 27637014, PMID 28100688, PMID 28285751, PMID 28453471, PMID 28748333, PMID 28764646, PMID 28823614, PMID 29931143, PMID 30126448, PMID 30153790, PMID 30570744, PMID 31138170, PMID 31532522, PMID 31599480, PMID 32660869, PMID 33232306, PMID 33443117, PMID 33773598, PMID 33778150, PMID 33927413, PMID 34535086, PMID 34690787, PMID 34942135, PMID 35112343, PMID 35123401, PMID 35213714
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