537 completed, 148 recruiting, 107 unknown, 62 terminated. 322 Not applicable, 161 Phase 2, 85 Phase 3, 58 Phase 1, 36 Phase 4.
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 |
|---|---|---|---|---|---|---|
| Regulating Together for Prader-Willi Syndrome: A Group Behavioral Therapy for Emotion Dysregulation Regulating Together group therapy - Prader-Willi Syndrome | Not applicable | Recruiting | Children's Mercy Hospital Kansas City | 10 | 2027-01-01 | 2026-09-02 |
| 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 |
| Effects of a Pacifier on Obstructive Sleep Apnea and Its Repercussions in Infants With Down Syndrome CURAPROX pacifier use, Pacifier diary, Polysomnography (PSG) to explore OSA - Obstructive Sleep Apnea, Down Syndrome (Trisomy 21) | Not applicable | Not yet recruiting | Hospices Civils de Lyon | 50 | 2026-11-02 | 2026-10-07 |
| 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 |
| Escalating Doses of Memantine in Down Syndrome (MEDS-123) Memantine - Down Syndrome, Intellectual Disability | Phase 1 | Not yet recruiting | University Hospitals Cleveland Medical Center | 25 | 2026-10-14 | 2026-10-05 |
| Sexual Quality of Life in Female Patients With Lipodystrophy Syndromes or Turner's Syndrome: a Case-control Study Lipodystrophy Congenital Generalized, Lipodystrophy, Familial Partial | Not yet recruiting | Assistance Publique - Hôpitaux de Paris | 1416 | 2026-10-01 | 2026-09-02 | |
| 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 |
| 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 |
| A Natural History Study of Angelman Syndrome Angelman Syndrome, Neurodevelopmental Conditions | Recruiting | Massachusetts General Hospital | 40 | 2026-09-09 | 2026-10-13 | |
| Hematological Profile in Children With Numerical Chromosomal Disorders Down Syndrome, Turner Syndrome | Not yet recruiting | Assiut University | 158 | 2026-09-02 | 2026-09-10 | |
| Vestibular Stimulation Versus Foot Intrinsic Muscle Exercises in Children With Down Syndrome Vestibular Stimulation Exercises, Foot Intrinsic Muscle Exercises - Down Syndrome, Balance Impairment | Not applicable | Not yet recruiting | Shalamar Institute of Health Sciences | 48 | 2026-09-02 | 2026-08-21 |
| 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 |
| Pilot Evaluation of the Developed Syntactic-Semantic Visual Configuration Intervention for Children With Language Impairment Syntactic-Semantic Visual Configuration Intervention (SSVCI) - Language Impairment, Autism | Not applicable | Not yet recruiting | Riphah International University | 20 | 2026-09-01 | 2026-08-26 |
| Executive Function Play Opportunities for Children With Down Syndrome EXPO, EXPO Extended, EXPO Foundations - Down Syndrome, Trisomy 21 | Not applicable | Not yet recruiting | Colorado State University | 150 | 2026-09-01 | 2026-08-28 |
| Home and Community Use of a Suspension Walker in Pre-Walking Infants With Down Syndrome suspension walker - Down Syndrome | Not applicable | Not yet recruiting | University of Southern California | 12 | 2026-09-01 | 2026-06-05 |
| NAD Augmentation to Prevent or Reverse Alzheimer's Disease in People With Down Syndrome MIB-626, Placebo - Down Syndrome (DS) | Phase 1 | Not yet recruiting | Brigham and Women's Hospital | 24 | 2026-08-31 | 2026-08-19 |
| 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 |
| 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 |
| The Neurocognitive Bases of Trust in Intellectual Disability Confidence adjustment assessment, clinical assessment, Cognitive assessment - Down Syndrome (Trisomy 21), Fragile X Syndrome (FXS) | Recruiting | Hospices Civils de Lyon | 112 | 2026-07-17 | 2026-08-05 | |
| 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 |
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Down Syndrome (432) · Prader-Willi Syndrome (140) · Turner Syndrome (124) · Fragile X Syndrome (113) · Angelman Syndrome (51) · Klinefelter Syndrome (47) · DiGeorge Syndrome (46) · Obesity (37) · Autism Spectrum Disorder (36) · Intellectual Disability (36) · Alzheimer Disease (31) · Genetic Diseases, Inborn (31) · Williams Syndrome (29) · Sleep Apnea, Obstructive (27) · Trisomy 18 Syndrome (27)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (956) · Congenital Abnormalities (945) · Genetic Diseases, Inborn (928) · Nervous System Diseases (775) · Neurologic Manifestations (711) · Neurobehavioral Manifestations (703) · Abnormalities, Multiple (695) · Intellectual Disability (673) · Sex Chromosome Disorders (264) · Endocrine System Diseases (224) · Cardiovascular Diseases (216) · Heart Diseases (216) · Pathological Conditions, Signs and Symptoms (206) · Cardiovascular Abnormalities (194)
Human Growth Hormone (30) · Blood Specimen Collection (15) · Growth Hormone (15) · Oxytocin (12) · Estradiol (8) · Exercise (7) · Cytarabine (6) · Donepezil (6) · Metformin (6) · Minocycline (6) · Surveys and Questionnaires (6) · gaboxadol (6) · mavoglurant (6) · Leucovorin (5) · Memantine (5)
Riphah International University (48) · University of Colorado, Denver (23) · Assistance Publique - Hôpitaux de Paris (18) · University Hospital, Toulouse (17) · University of Aarhus (17) · Children's Hospital Medical Center, Cincinnati (16) · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (15) · Novo Nordisk A/S (14) · Hoffmann-La Roche (13) · Cairo University (12) · Hospices Civils de Lyon (10) · Institut Jerome Lejeune (10) · Massachusetts General Hospital (10) · National Human Genome Research Institute (NHGRI) (9) · Seaside Therapeutics, Inc. (9)
United States (471) · France (129) · Spain (78) · Canada (59) · Italy (53) · Pakistan (50) · United Kingdom (46) · Denmark (36) · Australia (34) · Netherlands (26) · Germany (25) · Egypt (23) · Turkey (Türkiye) (23) · Belgium (21) · Israel (19)
Elizabeth Berry-Kravis, MD, PhD (5) · M. Louise Markert, MD, PhD (5) · Wen-Hann Tan, BMBS (5) · Joaquin Espinosa, PhD (4) · Randi J Hagerman, MD (4) · Allan L Reiss (3) · Bryan King, MD, PhD (3) · Carlos A. Bacino, MD (3) · Craig Erickson, MD (3)
PMID 18035553, PMID 18424759, PMID 18557726, PMID 19066739, PMID 20236866, PMID 17284531, PMID 36978128, PMID 33395098, PMID 38671361, PMID 15100156, PMID 18155964, PMID 20978268, PMID 22005709, PMID 22281937, PMID 23607606, PMID 25834952, PMID 26764156, PMID 26855682, PMID 29718281, PMID 32542985, PMID 33232306, PMID 35794169, PMID 37919617, PMID 10417280, PMID 10518081, PMID 10586155, PMID 10599727, PMID 10599729, PMID 11531930, PMID 12466334, PMID 12520259, PMID 12629094, PMID 12642839, PMID 12702512, PMID 12820840, PMID 12889762, PMID 15100681, PMID 15784709, PMID 15900109, PMID 16282778, PMID 16509530, PMID 16757526, PMID 16801584, PMID 16814942, PMID 17344250, PMID 17535868, PMID 17875973, PMID 18296460, PMID 18333898, PMID 19104360
K12HD043494 (7), R01AI047040 (7), R01AI054843 (6), U10CA180886 (5), UL1TR001082 (5), 2025 (4), R56AI047040 (4), 2009 (3), 2023 (3), 2017 (2), K23HD109375 (2), R01AG016381 (2), R01HD071981 (2), R61HL151253 (2), U10CA098543 (2)