42 completed, 4 terminated, 3 recruiting, 2 active not recruiting. 58 Phase 1, 19 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 |
|---|---|---|---|---|---|---|
| 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 |
| 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 Multiple Baseline Feasibility Trial of Social Management Training for People With Sex Chromosome Aneuploidies Social Management Training - Sex Chromosome Disorders | Phase 1 | Recruiting | University of Oslo | 30 | 2026-06-01 | 2026-07-22 |
| 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 |
| Hero: A Study to Evaluate the Safety, Tolerability, and Pharmacokinetics (PK) and Pharmacodynamics (PD) of ION269 in Participants With Down Syndrome (DS) at Risk for Alzheimer's Disease (AD) ION269 - Alzheimer Disease, Down Syndrome | Phase 1 | Terminated | Ionis Pharmaceuticals, Inc. | 1 | 2024-12-20 | 2026-02-20 |
| A Study of RM-718 in Healthy Subjects and Patients With MC4R Pathway Impairment Part A: RM-718 or placebo (matched to specific RM-718 dose cohort), Part B: RM-718 or placebo (matched to specific RM-718 dose cohort), Part C: RM-718 - Hypothalamic Obesity, Prader-Willi Syndrome | Phase 1 / Phase 2 | Active not recruiting | Rhythm Pharmaceuticals, Inc. | 111 | 2024-03-05 | 2026-10-09 |
| Leucettinib-21 First-in-Human Phase 1 in Healthy Volunteers and Subjects With Down Syndrome and Alzheimer's Disease Leucettinib-21 - Healthy Volunteers, Down Syndrome | Phase 1 | Completed | Perha Pharmaceuticals | 152 | 2024-01-18 | 2026-06-30 |
| CTH120 First-in-Human Study: Single and Multiple Ascending Doses and Potential Food Interaction CTH120, Placebo - Fragile X Syndrome | Phase 1 | Completed | Connecta Therapeutics, S.L. | 76 | 2023-06-23 | 2025-01-23 |
| Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities Methylphenidate Oral Solution - Intellectual Disability, Fragile X Syndrome | Phase 1 | Enrolling by invitation | University of California, Davis | 68 | 2023-02-01 | 2025-12-15 |
| Phase 1/2 Trial of AEF0217 in Participants With Down Syndrome Placebo, AEF0217 - Down Syndrome | Phase 1 / Phase 2 | Completed | Aelis Farma | 40 | 2022-12-15 | 2024-10-10 |
| A Pharmacokinetic and Safety Study of CSTI-500 in Subjects With Prader-Willi Syndrome CSTI-500 - Prader-Willi Syndrome | Phase 1 | Completed | ConSynance Therapeutics | 10 | 2022-11-14 | 2023-08-09 |
| A Study to Assess the Effects of ACI-24.060 in Alzheimer's Disease and in Down Syndrome (ABATE Study) Placebo (Study Part 1a), ACI-24.060 at Dose A in Study Part 1a, ACI-24.060 at Dose B in Study Part 1a - Amyloid Plaque, Beta-Amyloid | Phase 1 / Phase 2 | Recruiting | AC Immune SA | 304 | 2022-06-21 | 2026-07-10 |
| HALOS: A Safety, Tolerability, Pharmacokinetics and Pharmacodynamics Study of Multiple Ascending Doses of ION582 in Participants With Angelman Syndrome ION582 - Angelman Syndrome | Phase 1 / Phase 2 | Active not recruiting | Ionis Pharmaceuticals, Inc. | 71 | 2021-12-22 | 2026-08-20 |
| A Study To Assess Distribution Of RO7248824 In The Central Nervous System Following Single Intrathecal Doses Of [89zr] Labeled RO7248824 In Healthy Male Participants RO7248824 - Angelman Syndrome | Phase 1 | Completed | Hoffmann-La Roche | 21 | 2021-04-29 | 2022-09-08 |
| Novel Clinical Target in Fragile X Syndrome 18F-FTC-146 - Fragile X Syndrome (FXS) | Phase 1 | Withdrawn | Guido A. Davidzon, MD, SM | 2021-01-12 | 2022-11-15 | |
| Low-Dose Ketamine in Children With ADNP Syndrome Ketamine - ADNP Syndrome | Phase 1 / Phase 2 | Completed | Alexander Kolevzon | 10 | 2020-08-19 | 2023-07-07 |
| A Study to Investigate the Safety, Tolerability, Pharmacokinetics (PK) and Pharmacodynamics (PD) of RO7248824 in Participants With Angelman Syndrome (AS) RO7248824 - Angelman Syndrome | Phase 1 | Completed | Hoffmann-La Roche | 74 | 2020-08-19 | 2025-08-24 |
| tVNS in Children With Prader-Willi Syndrome tVNS - Prader-Willi Syndrome, Social Behavior | Phase 1 / Phase 2 | Withdrawn | Stanford University | 2020-07-01 | 2021-05-06 | |
| A Study of the Safety and Tolerability of GTX-102 in Children With Angelman Syndrome GTX-102 - Angelman Syndrome | Phase 1 / Phase 2 | Completed | Ultragenyx Pharmaceutical Inc | 74 | 2020-02-24 | 2026-01-09 |
| Metformin in Patients With Fragile X Metformin, Placebo oral tablet - Fragile X Syndrome | Phase 1 / Phase 2 | Unknown | Rowan University | 40 | 2019-10-29 | 2019-10-31 |
Showing 20 of 58. Sign in to see all of them.
Down Syndrome (16) · Fragile X Syndrome (16) · Prader-Willi Syndrome (12) · Angelman Syndrome (8) · Intellectual Disability (7) · Alzheimer Disease (6) · DiGeorge Syndrome (5) · Thymic aplasia (4) · Autism Spectrum Disorder (3) · Autistic Disorder (3) · Cognitive Dysfunction (3) · Immunologic Deficiency Syndromes (3) · Smith-Magenis Syndrome (3) · Central Nervous System Diseases (2) · Dementia (2)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (58) · Congenital Abnormalities (57) · Genetic Diseases, Inborn (57) · Nervous System Diseases (50) · Abnormalities, Multiple (42) · Neurologic Manifestations (42) · Neurobehavioral Manifestations (41) · Intellectual Disability (35) · Imprinting Disorders (20) · Mental Disorders (18) · Heredodegenerative Disorders, Nervous System (17) · Sex Chromosome Disorders (17) · X-Linked Intellectual Disability (16) · Genetic Diseases, X-Linked (15)
Oxytocin (4) · Human Growth Hormone (2) · Sodium Chloride (2) · Thymus Extracts (2) · 4-amino-8-(2-fluoro-6-methoxy-phenyl)-N-propylcinnoline-3-carboxamide (1) · 5-(2'-fluoroethyl)flumazenil (1) · 6-(3-fluoropropyl)-3-(2-(azepan-1-yl)ethyl)benzo(d)thiazol-2(3H)-one (1) · Acamprosate (1) · Antilymphocyte Serum (1) · Blood Specimen Collection (1) · Carbidopa (1) · Cognitive Behavioral Therapy (1) · Cyclosporine (1) · Cyclosporins (1) · Daclizumab (1)
Hoffmann-La Roche (4) · Stanford University (4) · Sumitomo Pharma Switzerland GmbH (4) · AC Immune SA (2) · Children's Hospital Medical Center, Cincinnati (2) · Ionis Pharmaceuticals, Inc. (2) · University Hospital, Toulouse (2) · University of Florida (2) · Aelis Farma (1) · Aevi Genomic Medicine, LLC, a Cerecor company (1) · Alexander Kolevzon (1) · Boston Children's Hospital (1) · Brigham and Women's Hospital (1) · Children's Treatment Network (1) · ConSynance Therapeutics (1)
United States (43) · Spain (7) · France (6) · United Kingdom (6) · Netherlands (3) · Australia (2) · Canada (2) · Israel (2) · Italy (2) · Brazil (1) · Germany (1) · Norway (1)
M. Louise Markert, MD, PhD (3) · Alberto C Costa, MD, PhD (1) · Alexander C Conley, PhD (1) · Alexander Kolevzon, MD (1) · Allan L Reiss (1) · Bill Grobman, M.D., M.B.A (1) · Craig Erickson, MD (1) · David Meeker (1) · David Russell, MD (1) · Durval Damiani (1) · Elizabeth Berry-Kravis, MD (1) · Eric Storch, Ph.D. (1) · Ernest Pedapati, MD (1) · Frederick T Chin, PhD (1)
PMID 18035553, PMID 18424759, PMID 18557726, PMID 19066739, PMID 20236866, PMID 15100156, PMID 17284531, PMID 23607606, PMID 15100681, PMID 18155964, PMID 18333898, PMID 20978268, PMID 22590644, PMID 28100688, PMID 28823614, PMID 30153790, PMID 32077057, PMID 33232306, PMID 33473111, PMID 35532913, PMID 35690720, PMID 36947593, PMID 37120522, PMID 40646322
K12HD043494 (4), R01AI047040 (4), R01AI054843 (4), 2023 (2), R56AI047040 (2), 2019 (1), R01AG047922 (1), R01HD076189 (1)