154 completed, 41 recruiting, 30 unknown, 15 terminated. 62 Phase 2, 42 Not applicable, 29 Phase 3, 21 Phase 4, 18 Phase 1.
Follow Sex Chromosome Disorders: new trials by email Literature Review of Sex Chromosome Disorders trials Research Report on Sex 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 |
| 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 | 2026-12-01 | 2026-10-30 |
| Hematological Profile in Children With Numerical Chromosomal Disorders Down Syndrome, Turner Syndrome | Not yet recruiting | Assiut University | 158 | 2026-11-02 | 2026-10-29 | |
| Single Session Support for Parents of Children With Neurodevelopmental Disabilities Struggling With Anxious Avoidance EMPOWER-ND - Neurodevelopmental Disorders, Autism Spectrum Disorder (ASD) | Not applicable | Not yet recruiting | Boston University Charles River Campus | 50 | 2026-11-01 | 2026-10-27 |
| 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 | |
| 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 |
| 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 | |
| The Efficacy and Safety of Inpegsomatropin Injection in Children With Turner Syndrome (TS) and Short Stature Inpegsomatropin-Injection, Givopegsomatropin Solution Injection - Turner Syndrome | Phase 3 | Recruiting | Xiamen Amoytop Biotech Co., Ltd. | 84 | 2026-07-05 | 2026-07-22 |
| 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 |
| 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 |
| Optical Imaging in X-linked Disorders. Clinical assessment, Parental questionnaires, Cognitive assessment - Fragile X Syndrome (FXS), Creatine Transporter Deficiency | Not applicable | Recruiting | Hospices Civils de Lyon | 118 | 2026-03-30 | 2026-05-15 |
| Intensive Multimodal Neurorehabilitation Targeting Neuroplasticity in Pediatric Neurodevelopmental and Chromosomal Disorders Neurodevelopmental Disorders, Neurodevelopmental Disorders (NDD) | Recruiting | Healing Hope International | 100 | 2026-03-01 | 2026-03-25 | |
| 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 |
| Trial Investigating the Efficacy and Safety of Weekly Lonapegsomatropin Compared to Daily Somatropin in Children and Adolescents With Short Stature or Growth Failure Due to Growth Hormone Sufficient Disorders Lonapegsomatropin [SKYTROFA®], Somatropin Pen Injector - Turner Syndrome, Short Stature Homeobox Gene Mutation | Phase 3 | Recruiting | Ascendis Pharma A/S | 186 | 2025-12-12 | 2026-09-30 |
| 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 |
| Parental Project Amongst 93 Patients With Turner Syndrome Turner Syndrome | Recruiting | University Hospital, Strasbourg, France | 93 | 2025-11-18 | 2026-01-15 | |
| 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 |
| Bleeding Patterns in Sequential and Continuous Progesterone Supplementation in Adolescents With Turner Syndrome Micronized progesterone 200 MG, Micronized Progesterone 100 MG - Turner Syndrome, Primary Ovarian Insufficiency (Poi) | Phase 4 | Recruiting | Children's Mercy Hospital Kansas City | 40 | 2025-07-31 | 2026-08-25 |
| 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 |
| Long-term Systematic Follow-up of Patients With Klinefelter Syndrome Followed at the Department of Growth and Reproduction, Rigshospitalet There is no intervention, only clinical description - Klinefelter Syndrome | Enrolling by invitation | Copenhagen University Hospital, Rigshospitalet | 300 | 2025-04-01 | 2025-09-10 |
Showing 20 of 273. Sign in to see all of them.
Turner Syndrome (124) · Fragile X Syndrome (114) · Klinefelter Syndrome (47) · Down Syndrome (23) · Genetic Diseases, Inborn (20) · Autism Spectrum Disorder (17) · Intellectual Disability (16) · Trisomy 13 Syndrome (14) · Trisomy 18 Syndrome (14) · Autistic Disorder (12) · Dwarfism, Pituitary (12) · Primary Ovarian Insufficiency (11) · Dwarfism (10) · Hypogonadism (9) · Congenital Abnormalities (8)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (273) · Chromosome Disorders (268) · Congenital Abnormalities (265) · Genetic Diseases, Inborn (253) · Endocrine System Diseases (163) · Female Urogenital Diseases (162) · Female Urogenital Diseases and Pregnancy Complications (162) · Urogenital Diseases (162) · Male Urogenital Diseases (161) · Gonadal Disorders (160) · Urogenital Abnormalities (160) · Sex Chromosome Disorders of Sex Development (156) · Disorders of Sex Development (155) · Nervous System Diseases (143)
Human Growth Hormone (24) · Growth Hormone (10) · Estradiol (8) · mavoglurant (6) · Metformin (5) · arbaclofen placarbil (5) · BPN14770 (4) · Blood Specimen Collection (4) · Minocycline (4) · gaboxadol (4) · 2-chloro-4-(1-(4-fluorophenyl)-2,5-dimethyl-1H-imidazol-4-ylethynyl)pyridine (3) · Acamprosate (3) · Estrogens (3) · Lovastatin (3) · Ascorbic Acid (2)
University of Aarhus (17) · Novo Nordisk A/S (12) · University of Colorado, Denver (10) · Children's Hospital Medical Center, Cincinnati (9) · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (9) · Seaside Therapeutics, Inc. (9) · Stanford University (8) · Natera, Inc. (6) · Novartis Pharmaceuticals (6) · University of California, Davis (6) · Assistance Publique - Hôpitaux de Paris (5) · Hospices Civils de Lyon (4) · Merck KGaA, Darmstadt, Germany (4) · Tetra Discovery Partners (4) · Université de Sherbrooke (4)
United States (146) · France (39) · Denmark (31) · Spain (27) · Italy (21) · Canada (17) · United Kingdom (17) · Germany (14) · Netherlands (12) · Australia (10) · Belgium (9) · South Korea (8) · Sweden (8) · Switzerland (8) · Israel (7)
Elizabeth Berry-Kravis, MD, PhD (5) · Randi J Hagerman, MD (4) · Allan L Reiss (3) · Bryan King, MD, PhD (3) · Craig Erickson, MD (3) · Craig Erikson, MD (3) · Elizabeth Berry-Kravis, MD (3) · James McCracken, MD (3) · Jeremy Veenstra-VanderWeele, MD (3) · Lawrence Ginsberg, MD (3) · Linmarie Sikich, MD (3)
PMID 36978128, PMID 26764156, PMID 26855682, PMID 32542985, PMID 33395098, PMID 35794169, PMID 10417280, PMID 10518081, PMID 10599727, PMID 10599729, PMID 11531930, PMID 12466334, PMID 12629094, PMID 12820840, PMID 15784709, PMID 15900109, PMID 16757526, PMID 16801584, PMID 16814942, PMID 17535868, PMID 17875973, PMID 19699898, PMID 20375405, PMID 20733274, PMID 20937127, PMID 21059347, PMID 21209411, PMID 21294891, PMID 21310373, PMID 21398400, PMID 21406078, PMID 21449786, PMID 21519036, PMID 21619701, PMID 21862226, PMID 21880799, PMID 21982653, PMID 22005709, PMID 22104675, PMID 22281937, PMID 22464072, PMID 22508317, PMID 22617594, PMID 22742782, PMID 22788856, PMID 23215555, PMID 23444191, PMID 23567489, PMID 23613152, PMID 23658497
UL1TR001082 (4), 2009 (3), K23HD109375 (2), 2004 (1), 2008 (1), 2023 (1), 2025 (1), 268201000048C-5-0-1 (1), K01MH083045 (1), K23HD092588 (1), K23MH077554 (1), K23NS070337 (1), N01HV681997 (1), R01AG076678 (1), R01HD071987 (1)