42 completed. 42 Phase 1, 13 Phase 2.
| Phase | Trials | Status |
|---|---|---|
| Phase 1 | 42 | Completed 42 |
| Phase 2 | 13 | Completed 13 |
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 |
|---|---|---|---|---|---|---|
| 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 |
| 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 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 |
| 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 |
| 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 |
| An Initial Study of AZD7325 in Adults With Fragile X Syndrome AZD7325 (High-Dose), AZD7325 (Low-Dose), Placebo oral capsule - Fragile X Syndrome | Phase 1 | Completed | Children's Hospital Medical Center, Cincinnati | 15 | 2018-01-16 | 2021-02-08 |
| Intranasal Oxytocin for Infants With Prader-Willi Syndrome Oxytocin, Placebo - Prader-Willi Syndrome | Phase 1 / Phase 2 | Completed | University of Florida | 15 | 2017-08-01 | 2020-03-26 |
| Single Dose Pharmacokinetic (PK) Study OV101 - Angelman Syndrome, Fragile X Syndrome | Phase 1 | Completed | Ovid Therapeutics Inc. | 12 | 2017-04-03 | 2017-11-30 |
| Safety and Efficacy Study of NFC-1 in Subjects Aged 12-17 Years With 22q11.2DS & Associated Neuropsychiatric Conditions NFC-1 - 22q11.2 Deletion Syndrome | Phase 1 | Completed | Aevi Genomic Medicine, LLC, a Cerecor company | 2 | 2016-11-28 | 2022-03-25 |
| Study of the Pharmacokinetics and Safety of Tasimelteon in Children and Adolescents tasimelteon - Circadian Rhythm Sleep Disorders, Non-24 Hour Sleep-Wake Disorder | Phase 1 | Completed | Vanda Pharmaceuticals | 24 | 2016-10-04 | 2024-03-21 |
| Glutaminergic Transmission in Autism : Molecular Imaging Exploration [18F]FPEB PET imaging, Biological samples, MRI - Autism, Fragile-X Syndrome (FXS) | Phase 1 | Completed | University Hospital, Tours | 27 | 2016-04-01 | 2025-12-31 |
| Safety, Tolerability and Immunogenicity of ACI-24 Vaccine in Adults With Down Syndrome ACI-24 low dose, ACI-24 high dose, Placebo - Down Syndrome | Phase 1 | Completed | AC Immune SA | 20 | 2016-03-01 | 2021-10-15 |
| Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome Social gaze training - Fragile X Syndrome, Intellectual Disability | Phase 1 / Phase 2 | Completed | Stanford University | 71 | 2015-04-01 | 2023-11-09 |
| Investigation of the Safety of Intranasal Glulisine in Down Syndrome Insulin glulisine, Saline - Down Syndrome | Phase 1 | Completed | HealthPartners Institute | 12 | 2015-04-01 | 2019-12-06 |
| Oxytocin Trial in Prader-Willi Syndrome Intranasal oxytocin, Placebo - Prader Willi Syndrome | Phase 1 | Completed | University of Florida | 24 | 2015-03-01 | 2018-04-05 |
| Parents Resources for Decreasing the Incidence of Change Triggered Temper Outbursts Visual Scheduling, signalling change - Child Behavior | Phase 1 | Completed | Queen's University, Belfast | 80 | 2015-01-01 | 2020-02-17 |
| Clinical Study of Diazoxide Choline Controlled-Release Tablet (DCCR) in Patients With Prader-Willi Syndrome DCCR, Placebo - Prader-Willi Syndrome | Phase 1 / Phase 2 | Completed | Essentialis, Inc. | 13 | 2014-04-01 | 2016-09-01 |
Showing 20 of 42. Sign in to see all of them.
Fragile X Syndrome (12) · Down Syndrome (11) · Prader-Willi Syndrome (9) · Angelman Syndrome (6) · DiGeorge Syndrome (4) · Intellectual Disability (4) · Alzheimer Disease (3) · Autism Spectrum Disorder (3) · Autistic Disorder (3) · Cognitive Dysfunction (3) · Smith-Magenis Syndrome (3) · Thymic aplasia (3) · Hypoparathyroidism (2) · Immunologic Deficiency Syndromes (2) · Parasomnias (2)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (42) · Congenital Abnormalities (41) · Genetic Diseases, Inborn (41) · Nervous System Diseases (37) · Abnormalities, Multiple (31) · Neurologic Manifestations (31) · Neurobehavioral Manifestations (30) · Intellectual Disability (27) · Imprinting Disorders (15) · Heredodegenerative Disorders, Nervous System (13) · Mental Disorders (13) · Sex Chromosome Disorders (12) · X-Linked Intellectual Disability (12) · Genetic Diseases, X-Linked (11)
Oxytocin (4) · Sodium Chloride (2) · Thymus Extracts (2) · 4-amino-8-(2-fluoro-6-methoxy-phenyl)-N-propylcinnoline-3-carboxamide (1) · Acamprosate (1) · Antilymphocyte Serum (1) · Blood Specimen Collection (1) · Carbidopa (1) · Cognitive Behavioral Therapy (1) · Cyclosporine (1) · Cyclosporins (1) · Daclizumab (1) · Diagnosis (1) · Donepezil (1) · Drug Implants (1)
Hoffmann-La Roche (4) · Sumitomo Pharma Switzerland GmbH (3) · Children's Hospital Medical Center, Cincinnati (2) · Stanford University (2) · University Hospital, Toulouse (2) · University of Florida (2) · AC Immune SA (1) · Aelis Farma (1) · Aevi Genomic Medicine, LLC, a Cerecor company (1) · Alexander Kolevzon (1) · Boston Children's Hospital (1) · Children's Treatment Network (1) · ConSynance Therapeutics (1) · Connecta Therapeutics, S.L. (1) · Duke University (1)
United States (31) · France (5) · Spain (5) · United Kingdom (4) · Netherlands (3) · Canada (2) · Australia (1) · Germany (1) · Israel (1) · Italy (1)
M. Louise Markert, MD, PhD (3) · 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 Russell, MD (1) · Elizabeth Berry-Kravis, MD (1) · Eric Storch, Ph.D. (1) · Ernest Pedapati, MD (1) · George Capone, MD (1) · Italo Biaggioni, MD (1) · Jennifer L Miller, MD (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 (3), R01AI047040 (3), R01AI054843 (3), R56AI047040 (2), 2019 (1), 2023 (1), R01AG047922 (1)