96 completed. 96 Phase 2, 13 Phase 1, 9 Phase 3.
| Phase | Trials | Status |
|---|---|---|
| Phase 2 | 96 | Completed 96 |
| Phase 1 | 13 | Completed 13 |
| Phase 3 | 9 | Completed 9 |
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 |
|---|---|---|---|---|---|---|
| Study of SPG601 in Adult Men With Fragile X Syndrome SPG601, Placebo - Fragile X Syndrome | Phase 2 | Completed | Spinogenix | 10 | 2024-07-05 | 2026-05-26 |
| Clemastine Fumarate in the Treatment of Neurodevelopmental Delays in Williams Syndrome Clemastine Fumarate Tablets, corn starch tablets - Williams Syndrome, Child | Phase 2 | Completed | Qilu Hospital of Shandong University | 28 | 2024-03-20 | 2026-03-19 |
| Placebo-Controlled, Single-Dose Challenge Study of Gaboxadol in Adult Males With Fragile X Syndrome (FXS) Gaboxadol, Placebo - Fragile X Syndrome | Phase 2 | Completed | Craig Erickson | 10 | 2024-01-29 | 2026-09-30 |
| A Study to Investigate the Pharmacokinetics (PK) and Safety and to Provide Proof of Mechanism of Alogabat in Children and Adolescents Aged 5-17 Years With Angelman Syndrome (AS) With Deletion Genotype. Alogabat - Angelman Syndrome | Phase 2 | Completed | Hoffmann-La Roche | 48 | 2023-07-27 | 2025-12-04 |
| Therapies for Down Syndrome Regression Disorder Lorazepam, Intravenous immunoglobulin (IVIG), Tofacitinib - Down Syndrome, Regression | Phase 2 | Completed | University of Colorado, Denver | 66 | 2023-06-29 | 2026-09-03 |
| Understanding the Role of Gut Microbiota in Hyperphagia in Prader-Willi Syndrome NBT-NM108 - Prader-Willi Syndrome, Obesity | Phase 2 | Completed | Rutgers, The State University of New Jersey | 12 | 2023-01-06 | 2024-07-16 |
| 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 |
| Study to Evaluate Efficacy, Safety, and Tolerability of RGH-706 in Prader-Willi Syndrome RGH-706, Placebo - Prader-Willi Syndrome | Phase 2 | Completed | Gedeon Richter Plc. | 39 | 2022-09-22 | 2024-06-03 |
| An Open-Label Study of the Safety, Tolerability, and Pharmacokinetics of Oral NNZ-2591 in Angelman Syndrome NNZ-2591 - Angelman Syndrome | Phase 2 | Completed | Neuren Pharmaceuticals Limited | 17 | 2022-07-12 | 2025-01-31 |
| A Study of Oral ARD-101 in Patients With Prader-Willi Syndrome ARD-101 - Prader-Willi Syndrome | Phase 2 | Completed | Aardvark Therapeutics, Inc. | 19 | 2022-05-27 | 2026-09-08 |
| Dilated Versus Non-Dilated Wavefront Corrections for Patients With Down Syndrome Dilated Refraction, Non-Dilated Refraction - Down Syndrome, Refractive Errors | Phase 2 | Completed | Ohio State University | 42 | 2022-05-06 | 2026-05-08 |
| Effect of Intranasal Oxytocin on Dysphagia in Children and Adolescents With Prader-Willi Syndrome Oxytocin nasal spray, Placebo - Prader-Willi Syndrome | Phase 2 / Phase 3 | Completed | University Hospital, Toulouse | 25 | 2022-04-05 | 2023-06-01 |
| A Randomized Study of BPN14770 in Male Adolescents (Aged 9 to < 18 Years) With Fragile X Syndrome zatolmilast, Placebo - Fragile X Syndrome | Phase 2 / Phase 3 | Completed | Tetra Discovery Partners | 163 | 2022-03-29 | 2026-08-31 |
| A Trial of YPEG-rhGH in Children With Short Stature YPEG-rhGH, rhGH - Idiopathic Short Stature, Small for Gestational Age | Phase 2 | Completed | Xiamen Amoytop Biotech Co., Ltd. | 78 | 2022-02-15 | 2024-01-24 |
| NB-001 in Children and Adolescents With 22q11 Deletion Syndrome NB-001, Placebo - 22q11 Deletion Syndrome | Phase 2 | Completed | Nobias Therapeutics, Inc. | 37 | 2022-02-10 | 2025-02-10 |
| ERG/5-HTP in Fragile X Syndrome (FXS) 5-Hydroxytryptophan, Ergoloid Mesylates, Matching placebo for Ergoloid mesylates - Fragile X Syndrome | Phase 2 | Completed | Elizabeth Berry-Kravis | 15 | 2021-10-07 | 2024-09-19 |
| A Phase 2 Study to Evaluate the Safety and Efficacy of Pitolisant in Patients With Prader-Willi Syndrome, Followed by an Open Label Extension Pitolisant oral tablets, Placebo oral tablet - Prader-Willi Syndrome | Phase 2 | Completed | Harmony Biosciences Management, Inc. | 65 | 2020-12-09 | 2026-05-12 |
| Medications for Obstructive Sleep Apnea In Children With Down Syndrome Atomoxetine and oxybutynin (ato-oxy) - Obstructive Sleep Apnea, Down Syndrome | Phase 2 | Completed | University of Arizona | 22 | 2020-10-21 | 2025-08-19 |
| Tofacitinib for Immune Skin Conditions in Down Syndrome Tofacitinib - Down Syndrome, Alopecia Areata | Phase 2 | Completed | University of Colorado, Denver | 47 | 2020-10-21 | 2025-12-11 |
| 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 |
Showing 20 of 96. Sign in to see all of them.
Fragile X Syndrome (32) · Down Syndrome (19) · Prader-Willi Syndrome (17) · Angelman Syndrome (6) · Autistic Disorder (6) · DiGeorge Syndrome (6) · Turner Syndrome (6) · Obesity (5) · Genetic Diseases, Inborn (4) · Intellectual Disability (4) · Anxiety Disorders (3) · Hyperphagia (3) · Immunologic Deficiency Syndromes (3) · Klinefelter Syndrome (3)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (96) · Congenital Abnormalities (94) · Genetic Diseases, Inborn (92) · Nervous System Diseases (77) · Neurologic Manifestations (72) · Neurobehavioral Manifestations (70) · Intellectual Disability (68) · Abnormalities, Multiple (52) · Sex Chromosome Disorders (39) · Heredodegenerative Disorders, Nervous System (32) · Genetic Diseases, X-Linked (31) · X-Linked Intellectual Disability (30) · Imprinting Disorders (23) · Pathological Conditions, Signs and Symptoms (23)
Oxytocin (8) · 2-chloro-4-(1-(4-fluorophenyl)-2,5-dimethyl-1H-imidazol-4-ylethynyl)pyridine (3) · Metformin (3) · epigallocatechin gallate (3) · gaboxadol (3) · mavoglurant (3) · BPN14770 (2) · Donepezil (2) · Drug Implants (2) · Growth Hormone (2) · Human Growth Hormone (2) · Minocycline (2) · Oxandrolone (2) · Sodium Chloride (2) · Thymus Extracts (2)
Hoffmann-La Roche (5) · University Hospital, Toulouse (5) · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (4) · Parc de Salut Mar (3) · Stanford University (3) · Sumitomo Pharma Switzerland GmbH (3) · Elizabeth Berry-Kravis (2) · Harmony Biosciences Management, Inc. (2) · Indiana University (2) · Neuren Pharmaceuticals Limited (2) · Novartis Pharmaceuticals (2) · Rhythm Pharmaceuticals, Inc. (2) · Tetra Discovery Partners (2) · University of Colorado, Denver (2) · Université de Sherbrooke (2)
United States (71) · France (17) · Spain (13) · Canada (12) · Australia (7) · Italy (7) · United Kingdom (6) · Germany (5) · Israel (5) · Switzerland (3) · Argentina (2) · Belgium (2) · China (2) · Denmark (2) · Greece (2)
Elizabeth Berry-Kravis, MD, PhD (4) · M. Louise Markert, MD, PhD (3) · Alexander Kolevzon, MD (2) · Allan L Reiss (2) · Craig Erickson, MD (2) · Eric Hollander, MD (2) · Jennifer Miller, MD (2) · Joaquin Espinosa, PhD (2) · Randi Hagerman, MD (2) · Randi J Hagerman, MD (2) · Shivkumar Hatti, MD (2) · Alberto C Costa, MD, PhD (1) · Alexander C Conley, PhD (1)
PMID 18035553, PMID 18424759, PMID 18557726, PMID 19066739, PMID 20236866, PMID 17284531, PMID 26764156, 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 26855682, 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 33395098, PMID 33443117, PMID 33773598, PMID 33927413, PMID 34535086, PMID 34690787, PMID 34942135, PMID 35112343, PMID 35123401, PMID 35213714, PMID 36434514
K12HD043494 (3), R01AI047040 (3), R01AI054843 (3), 2009 (2), R56AI047040 (2), 2017 (1), R01DC016321 (1), R33AR077495 (1), R34MH085899 (1), R61HL151254 (1), U01NS096767 (1)