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ClinicalTrials.gov public records Last synced Oct 4, 2026, 12:57 AM EDT

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Showing 1–24 of 82 matching trials from the live ClinicalTrials.gov search.
Conditions
Developmental Disability, Intellectual Disability, Autism Spectrum Disorder, Congenital Anomaly, Fragile X Syndrome, Facioscapulohumeral Muscular Dystrophy 1
Interventions
Standard of care genetic testing group
Other
Lead sponsor
Bionano Genomics
Industry
Eligibility
Not listed
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2024
U.S. locations
8
States / cities
Atlanta, Georgia • Augusta, Georgia • Iowa City, Iowa + 5 more
Conditions
Fragile X Syndrome
Interventions
Speech discrimination
Other
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
6 Months to 26 Months
Enrollment
30 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2027
U.S. locations
1
States / cities
Cincinnati, Ohio
Conditions
Fragile X Syndrome
Interventions
placebo, oxytocin 24IU, oxytocin 48IU
Drug
Lead sponsor
Stanford University
Other
Eligibility
13 Years to 29 Years · Male only
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2010
U.S. locations
1
States / cities
Stanford, California
Conditions
Fragile X Syndrome
Interventions
Aripiprazole
Drug
Lead sponsor
Indiana University
Other
Eligibility
5 Years to 35 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2010
U.S. locations
1
States / cities
Indianapolis, Indiana
Conditions
Fragile X Syndrome
Interventions
STX209
Drug
Lead sponsor
Seaside Therapeutics, Inc.
Industry
Eligibility
6 Years to 17 Years
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2009
U.S. locations
8
States / cities
Phoenix, Arizona • Los Angeles, California • New Haven, Connecticut + 5 more
Conditions
Neurodevelopmental Disorders, Neurodevelopmental Disorders (NDD), Neurodevelopmental Disorders and Developmental Abnormalities, Developmental Delay (Disorder), Cerebral Palsy (CP), Cerebral Palsy Hemiparetic Cerebral Palsy Spasticity Gait Disorders, Neurologic Postural Balance Impairment, Cerebral Palsy Infantile, Cerebral Palsy Spastic Hemiplegic, Cerebral Palsy, Dyskinetic, Autism Spectrum Disorder, Autism Spectrum Disorder (ASD, Hypoxic Ischemic Encephalopathy, Hypoxic Ischemic Encephalopathy (HIE), Traumatic Brain Injury (TBI), Sensory Processing Disorder, Chromosomal Abnormalities, Genetic Disorders, Down Syndrome (Trisomy 21), Fragile X Syndrome (FXS), RETT Syndrome With Proven MECP2 Mutation, Williams Syndrome, 22q11.2 Deletion Syndrome, Sensorimotor Integration
Interventions
Not listed
Lead sponsor
Healing Hope International
Other
Eligibility
4 Years to 12 Years
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2036
U.S. locations
1
States / cities
The Woodlands, Texas
Conditions
Fragile X Syndrome
Interventions
Placebo, RO4917523
Drug
Lead sponsor
Hoffmann-La Roche
Industry
Eligibility
5 Years to 13 Years
Enrollment
47 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2014
U.S. locations
20
States / cities
Long Beach, California • Sacramento, California • San Diego, California + 17 more
Conditions
Fragile X Syndrome
Interventions
ZYN002 - Cannabidiol Transdermal Gel
Drug
Lead sponsor
Zynerba Pharmaceuticals, Inc.
Industry
Eligibility
3 Years to 29 Years
Enrollment
476 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2026
U.S. locations
19
States / cities
Phoenix, Arizona • Culver City, California • Irvine, California + 16 more
Conditions
Fragile X Syndrome
Interventions
AFQ056
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
3 Years to 11 Years
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2013
U.S. locations
3
States / cities
Sacramento, California • Chicago, Illinois • Nashville, Tennessee
Conditions
Developmental Disabilities, Fragile X Syndrome
Interventions
discrete-trial training
Behavioral
Lead sponsor
Stanford University
Other
Eligibility
10 Years to 23 Years
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2013
U.S. locations
1
States / cities
Stanford, California
Completed Phase 2 Interventional Results available

ERG/5-HTP in Fragile X Syndrome (FXS)

NCT05030129
Conditions
Fragile X Syndrome
Interventions
5-Hydroxytryptophan, Ergoloid Mesylates, Matching placebo for Ergoloid mesylates, Matching placebo for 5-Hydroxytryptophan
Drug
Lead sponsor
Elizabeth Berry-Kravis
Other
Eligibility
18 Years to 45 Years · Male only
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
1
States / cities
Chicago, Illinois
Conditions
Fragile x Syndrome
Interventions
Ganaxolone, Placebo
Drug
Lead sponsor
Marinus Pharmaceuticals
Industry
Eligibility
6 Years to 17 Years
Enrollment
59 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2016
U.S. locations
1
States / cities
Sacramento, California
Conditions
Healthy, Fragile X Syndrome
Interventions
Follicle Aspiration
Procedure
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
18 Years to 45 Years · Female only
Enrollment
116 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2004 – 2018
U.S. locations
1
States / cities
Boston, Massachusetts
Conditions
Fragile X Syndrome
Interventions
BPN14770/ zatolmilast, Placebo
Drug
Lead sponsor
Tetra Discovery Partners
Industry
Eligibility
18 Years to 45 Years · Male only
Enrollment
171 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2025
U.S. locations
17
States / cities
Irvine, California • Orange, California • Sacramento, California + 14 more
Conditions
Fragile X Syndrome
Interventions
AFQ056
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years and older
Enrollment
148 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2014
U.S. locations
10
States / cities
Phoenix, Arizona • Sacramento, California • Decatur, Georgia + 7 more
Conditions
Fragile X Syndrome
Interventions
donepezil, sugar pill
Drug
Lead sponsor
Stanford University
Other
Eligibility
12 Years to 29 Years
Enrollment
45 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2013
U.S. locations
1
States / cities
Stanford, California
Conditions
Fragile X Syndrome
Interventions
STX107
Drug
Lead sponsor
Seaside Therapeutics, Inc.
Industry
Eligibility
18 Years to 50 Years · Male only
Enrollment
40 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2009 – 2010
U.S. locations
1
States / cities
Madison, Wisconsin
Completed Phase 4 Interventional Results available

Riluzole in Fragile X Syndrome

NCT00895752
Conditions
Fragile X Syndrome
Interventions
Riluzole
Drug
Lead sponsor
Indiana University
Other
Eligibility
18 Years and older
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2010
U.S. locations
1
States / cities
Indianapolis, Indiana
Conditions
Fragile X Syndrome, Disruptive Behavior
Interventions
Behavior analytic treatment
Behavioral
Lead sponsor
Stanford University
Other
Eligibility
3 Years to 10 Years · Male only
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2022
U.S. locations
1
States / cities
Stanford, California
Active, not recruiting No phase listed Observational Accepts healthy volunteers

Early Check: Expanded Screening in Newborns

NCT03655223
Conditions
Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy, Hyperinsulinemic Hypoglycemia, Familial 1, Diabetes Mellitus, Adrenoleukodystrophy, Neonatal, Medium-chain Acyl-CoA Dehydrogenase Deficiency, Very Long Chain Acyl Coa Dehydrogenase Deficiency, Beta-ketothiolase Deficiency, Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency, Primary Hyperoxaluria Type 1, Congenital Bile Acid Synthesis Defect Type 2, Pyridoxine-Dependent Epilepsy, Hereditary Fructose Intolerance, Hypophosphatasia, Hyperargininemia, Mucopolysaccharidosis Type 6, Argininosuccinic Aciduria, Citrullinemia, Type I, Wilson Disease, Maple Syrup Urine Disease, Type 1A, Maple Syrup Urine Disease, Type 1B, Biotinidase Deficiency, Neonatal Severe Primary Hyperparathyroidism, Intrinsic Factor Deficiency, Usher Syndrome Type 1D/F Digenic (Diagnosis), Cystic Fibrosis, Stickler Syndrome Type 2, Stickler Syndrome Type 1, Alport Syndrome, Autosomal Recessive, Alport Syndrome, X-Linked, Carbamoyl Phosphate Synthetase I Deficiency Disease, Carnitine Palmitoyl Transferase 1A Deficiency, Carnitine Palmitoyltransferase II Deficiency, Cystinosis, Chronic Granulomatous Disease, Cerebrotendinous Xanthomatoses, Maple Syrup Urine Disease, Type 2, Severe Combined Immunodeficiency Due to DCLRE1C Deficiency, Thyroid Dyshormonogenesis 6, Thyroid Dyshormonogenesis 5, Supravalvar Aortic Stenosis, Factor X Deficiency, Hemophilia A, Hemophilia B, Tyrosinemia, Type I, Fructose 1,6 Bisphosphatase Deficiency, Glycogen Storage Disease Type I, G6PD Deficiency, Glycogen Storage Disease II, Galactokinase Deficiency, Mucopolysaccharidosis Type IV A, Galactosemias, Guanidinoacetate Methyltransferase Deficiency, Agat Deficiency, Glutaryl-CoA Dehydrogenase Deficiency, Gtp Cyclohydrolase I Deficiency, Hyperinsulinism-Hyperammonemia Syndrome, Primary Hyperoxaluria Type 2, 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency, Mitochondrial Trifunctional Protein Deficiency, Sickle Cell Disease, Beta-Thalassemia, Holocarboxylase Synthetase Deficiency, 3-Hydroxy-3-Methylglutaric Aciduria, Primary Hyperoxaluria Type 3, Hermansky-Pudlak Syndrome 1, Hermansky-Pudlak Syndrome 4, Apparent Mineralocorticoid Excess, HSDB, CBAS1, Mucopolysaccharidosis Type 2, Mucopolysaccharidosis Type 1, Severe Combined Immunodeficiency, X Linked, Severe Combined Immunodeficiency Due to IL-7Ralpha Deficiency, Diabetes Mellitus, Permanent Neonatal, Isovaleric Acidemia, Severe Combined Immunodeficiency T-Cell Negative B-Cell Positive Due to Janus Kinase-3 Deficiency (Disorder), Jervell and Lange-Nielsen Syndrome 2, Hyperinsulinemic Hypoglycemia, Familial, 2, Diabetes Mellitus, Permanent Neonatal, With Neurologic Features, Jervell and Lange-Nielsen Syndrome 1, Lysosomal Acid Lipase Deficiency, CblF, 3-Methylcrotonyl CoA Carboxylase 1 Deficiency, 3-Methylcrotonyl CoA Carboxylase 2 Deficiency, Waardenburg Syndrome Type 2A, Methylmalonic Aciduria cblA Type, Methylmalonic Aciduria cblB Type, Methylmalonic Aciduria and Homocystinuria Type cblC, MAHCD, Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency, Congenital Disorder of Glycosylation Type 1B, Mthfr Deficiency, Methylcobalamin Deficiency Type Cbl G (Disorder), Methylcobalamin Deficiency Type cblE, Usher Syndrome, Type 1B, N-acetylglutamate Synthase Deficiency, Ornithine Transcarbamylase Deficiency, Phenylketonurias, Waardenburg Syndrome Type 1, Congenital Hypothyroidism, Propionic Acidemia, Usher Syndrome, Type 1F, Pancreatic Agenesis 1, Hereditary Hypophosphatemic Rickets, Glycogen Storage Disease IXB, Glycogen Storage Disease IXC, MOWS, Epilepsy, Early-Onset, Vitamin B6-Dependent, Pyridoxal Phosphate-Responsive Seizures, Pituitary Hormone Deficiency, Combined, 1, Ptsd, Dihydropteridine Reductase Deficiency, Severe Combined Immunodeficiency Due to RAG1 Deficiency, Severe Combined Immunodeficiency Due to RAG2 Deficiency, Retinoblastoma, Multiple Endocrine Neoplasia Type 2B, Pseudohypoaldosteronism, Type I, Liddle Syndrome, Biotin-Responsive Basal Ganglia Disease, SCD, DIAR1, GSD1C, Acrodermatitis Enteropathica, Thyroid Dyshormonogenesis 1, Riboflavin Transporter Deficiency, Waardenburg Syndrome, Type 2E, SRD, Congenital Lipoid Adrenal Hyperplasia Due to STAR Deficiency, Barth Syndrome, Adrenocorticotropic Hormone Deficiency, Transcobalamin II Deficiency, Thyroid Dyshormonogenesis 3, Segawa Syndrome, Autosomal Recessive, Autosomal Recessive Nonsyndromic Hearing Loss, Thyroid Dyshormonogenesis 2A, Congenital Isolated Thyroid Stimulating Hormone Deficiency, Hypothyroidism Due to TSH Receptor Mutations, Usher Syndrome Type 1C, Usher Syndrome Type 1G (Diagnosis), Von Willebrand Disease, Type 3, Combined Immunodeficiency Due to ZAP70 Deficiency, Adenine Phosphoribosyltransferase Deficiency, Metachromatic Leukodystrophy, Canavan Disease, Menkes Disease, Carbonic Anhydrase VA Deficiency, Developmental and Epileptic Encephalopathy 2, 17 Alpha-Hydroxylase Deficiency, Smith-Lemli-Opitz Syndrome, Krabbe Disease, Glutathione Synthetase Deficiency, Mucopolysaccharidosis Type 7, Rett Syndrome, Molybdenum Cofactor Deficiency, Type A, Niemann-Pick Disease, Type C1, Niemann-Pick Disease Type C2, Ornithine Aminotransferase Deficiency, 3-Phosphoglycerate Dehydrogenase Deficiency, Leber Congenital Amaurosis 2, Dravet Syndrome, Mucopolysaccharidosis Type 3 A, Ornithine Translocase Deficiency, Carnitine-acylcarnitine Translocase Deficiency, Glucose Transporter Type 1 Deficiency Syndrome, Creatine Transporter Deficiency, Niemann-Pick Disease Type A, Pitt Hopkins Syndrome, Tuberous Sclerosis 1, Tuberous Sclerosis 2, Ataxia With Isolated Vitamin E Deficiency, Angelman Syndrome, Prader-Willi Syndrome, Homocystinuria, Permanent Neonatal Diabetes Mellitus, Transient Neonatal Diabetes Mellitus, Factor VII Deficiency, Glycogen Storage Disease Type IXA1, Glycogen Storage Disease, Type IXA2, Glycogen Storage Disease IC, Glycogen Storage Disease Type IB, Central Hypoventilation Syndrome With or Without Hirschsprung Disease
Interventions
Confirmatory Testing
Diagnostic Test
Lead sponsor
RTI International
Other
Eligibility
1 Day to 31 Days
Enrollment
30,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2026
U.S. locations
1
States / cities
Research Triangle Park, North Carolina
Conditions
Fragile X Syndrome
Interventions
Low dose of MRM-3379, Middle Dose of MRM-3379, High dose of MRM-3379, Placebo, Low dose of MRM-3379 Open-Label
Drug
Lead sponsor
Mirum Pharmaceuticals, Inc.
Industry
Eligibility
13 Years to 45 Years · Male only
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
15
States / cities
Phoenix, Arizona • Irvine, California • Orange, California + 12 more
Conditions
Fragile X Syndrome
Interventions
NNZ-2566, Placebo
Drug
Lead sponsor
Neuren Pharmaceuticals Limited
Industry
Eligibility
12 Years to 45 Years · Male only
Enrollment
72 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2015
U.S. locations
17
States / cities
Sacramento, California • Denver, Colorado • Washington D.C., District of Columbia + 14 more
Completed Not applicable Interventional Results available

Trial of Minocycline to Treat Children With Fragile X Syndrome

NCT01053156
Conditions
Fragile X Syndrome
Interventions
minocycline hydrochloride, Placebo
Drug
Lead sponsor
University of California, Davis
Other
Eligibility
42 Months to 16 Years
Enrollment
66 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2011
U.S. locations
1
States / cities
Sacramento, California
Conditions
Fragile X Syndrome
Interventions
Speech discrimination
Other
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
24 Months to 4 Years
Enrollment
90 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2027
U.S. locations
1
States / cities
Cincinnati, Ohio