41 completed, 5 not yet recruiting, 4 recruiting, 3 active not recruiting. 62 Phase 2, 7 Phase 3, 3 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders Sertraline, Placebo - Neurodevelopmental Disorders, Autism | Phase 2 | Recruiting | Holland Bloorview Kids Rehabilitation Hospital | 130 | 2024-09-16 | 2026-07-27 |
| 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 |
| Vosoritide for Short Stature in Turner Syndrome Vosoritide - Turner Syndrome, Short Stature | Phase 2 | Unknown | Roopa Kanakatti Shankar, MBBS, MS | 20 | 2024-04-12 | 2024-06-24 |
| 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 |
| An Investigation of Psilocybin on Behavioural and Cognitive Symptoms of Adults With Fragile X Syndrome Psilocybin, 1.5 mg - Fragile X Syndrome, Behavior | Phase 2 | Suspended | Nova Mentis Life Science Corp | 10 | 2023-03-28 | 2024-05-08 |
| A Trial to Investigate Different Doses of Lonapegsomatropin Compared to Somatropin in Individuals With Turner Syndrome Lonapegsomatropin, Somatropin - Turner Syndrome | Phase 2 | Active not recruiting | Ascendis Pharma Endocrinology Division A/S | 48 | 2023-02-15 | 2026-05-13 |
| Evaluating the Neurophysiologic and Clinical Effects of Single Dose Drug Challenge Baclofen, Memantine, Roflumilast - Fragile X Syndrome | Phase 2 | Active not recruiting | Children's Hospital Medical Center, Cincinnati | 45 | 2022-09-08 | 2025-12-23 |
| Investigation of Sulindac (HLX-0201) and Gaboxadol (HLX-0206) in Male Fragile X Syndrome Patients Aged 13-40 Sulindac (HLX-0201), dose strength 1, Sulindac (HLX-0201), dose strength 2, Placebo - Fragile X Syndrome | Phase 2 | Withdrawn | Healx Limited | 2022-05-25 | 2022-12-08 | |
| 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 |
| 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 |
| 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 |
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Fragile X Syndrome (48) · Turner Syndrome (11) · Autistic Disorder (8) · Genetic Diseases, Inborn (6) · Autism Spectrum Disorder (4) · Intellectual Disability (4) · Neurobehavioral Manifestations (4) · Anxiety Disorders (3) · Congenital Abnormalities (3) · Dwarfism (3) · Genetic Diseases, X-Linked (3) · Klinefelter Syndrome (3) · Nervous System Diseases (3) · Central Nervous System Diseases (2) · Chromosome Disorders (2)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (62) · Chromosome Disorders (60) · Congenital Abnormalities (59) · Genetic Diseases, Inborn (56) · Heredodegenerative Disorders, Nervous System (48) · Neurologic Manifestations (48) · X-Linked Intellectual Disability (46) · Genetic Diseases, X-Linked (45) · Nervous System Diseases (45) · Intellectual Disability (44) · Neurobehavioral Manifestations (44) · Endocrine System Diseases (15) · Disorders of Sex Development (14) · Female Urogenital Diseases (14)
mavoglurant (5) · Metformin (4) · 2-chloro-4-(1-(4-fluorophenyl)-2,5-dimethyl-1H-imidazol-4-ylethynyl)pyridine (3) · Human Growth Hormone (3) · gaboxadol (3) · BPN14770 (2) · Growth Hormone (2) · Oxandrolone (2) · Sertraline (2) · arbaclofen placarbil (2) · 1-(quinoxalin-6-ylcarbonyl)piperidine (1) · 5-Hydroxytryptophan (1) · Acamprosate (1) · Aripiprazole (1) · Ascorbic Acid (1)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (4) · Novartis Pharmaceuticals (4) · Université de Sherbrooke (4) · Hoffmann-La Roche (3) · Seaside Therapeutics, Inc. (3) · Stanford University (3) · Elizabeth Berry-Kravis (2) · Indiana University (2) · Spinogenix (2) · Tetra Discovery Partners (2) · Zynerba Pharmaceuticals, Inc. (2) · Alcobra Ltd. (1) · Ascendis Pharma Endocrinology Division A/S (1) · Azevan Pharmaceuticals (1) · Changchun GeneScience Pharmaceutical Co., Ltd. (1)
United States (46) · Canada (11) · Spain (9) · Australia (7) · France (6) · Italy (6) · United Kingdom (6) · Switzerland (5) · Denmark (4) · Germany (4) · Belgium (3) · Israel (3) · Sweden (3) · China (2) · Netherlands (2)
Elizabeth Berry-Kravis, MD, PhD (4) · Allan L Reiss (2) · Craig A. Erickson, M.D. (2) · Craig Erickson, MD (2) · Randi Hagerman, MD (2) · Randi J Hagerman, MD (2) · Shivkumar Hatti, MD (2) · Alexander Kolevzon, MD (1) · Amit Rakhit, MD (1) · Andrea Isidori, MD, PhD (1)
PMID 26764156, PMID 26855682, PMID 33395098, PMID 21209411, PMID 21449786, PMID 21862226, PMID 24762109, PMID 25187257, PMID 27637014, PMID 28285751, PMID 28764646, PMID 29931143, PMID 30153790, PMID 31532522, PMID 32660869, PMID 33927413, PMID 34690787, PMID 36434514, PMID 39248107, PMID 39483619, PMID 41254489, PMID 42104256
2009 (2), 2025 (1), R34MH085899 (1), U01NS096767 (1), U54HD104461 (1)