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ClinicalTrials.gov public records Last synced May 21, 2026, 11:54 PM EDT

Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.

Showing 1–24 of 244 matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
Filters: Condition: X-Linked Intellectual Disability Clear all
Completed No phase listed Observational
View directory record Official record
Conditions
Rett Syndrome, MECP2 Duplication, CDKL5, FOXG1 Disorders
Interventions
Not listed
Lead sponsor
University of Alabama at Birmingham
Other
Eligibility
Not listed
Enrollment
752 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2021
U.S. locations
12
States / cities
Birmingham, Alabama • Oakland, California • San Diego, California + 9 more
Source: ClinicalTrials.gov public record
Updated Aug 4, 2021 · Synced May 21, 2026, 11:54 PM EDT
Completed Phase 2Phase 3 Interventional Results available
View directory record Official record
Conditions
Cerebral Adrenoleukodystrophy (CALD)
Interventions
Lenti-D Drug Product (eli-cel)
Genetic
Lead sponsor
Genetix Biotherapeutics Inc.
Industry
Eligibility
Up to 17 Years · Male only
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2021
U.S. locations
3
States / cities
Los Angeles, California • Boston, Massachusetts • Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Apr 24, 2022 · Synced May 21, 2026, 11:54 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available
View directory record Official record
Conditions
X-linked Adrenoleukodystrophy
Interventions
exercise training
Behavioral
Lead sponsor
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Other
Eligibility
21 Years to 70 Years · Female only
Enrollment
31 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2014
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 28, 2018 · Synced May 21, 2026, 11:54 PM EDT
Active, not recruiting Phase 1Phase 2 Interventional
View directory record Official record
Conditions
Rett Syndrome
Interventions
TSHA-102
Genetic
Lead sponsor
Taysha Gene Therapies, Inc.
Industry
Eligibility
5 Years to 8 Years · Female only
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2031
U.S. locations
3
States / cities
Chicago, Illinois • Saint Paul, Minnesota • St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated Oct 14, 2025 · Synced May 21, 2026, 11:54 PM EDT
Completed Phase 2 Interventional Results available
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
Sertraline, Placebo
Drug
Lead sponsor
Randi J. Hagerman, MD
Other
Eligibility
24 Months to 68 Months
Enrollment
57 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2015
U.S. locations
1
States / cities
Sacramento, California
Source: ClinicalTrials.gov public record
Updated Sep 24, 2017 · Synced May 21, 2026, 11:54 PM EDT
Completed Phase 2 Interventional Results available
View directory record Official record
Conditions
Rett Syndrome
Interventions
Recombinant Human Insulin Growth Factor 1 (rhIGF-1), Placebo
Drug
Lead sponsor
Boston Children's Hospital
Other
Eligibility
2 Years to 10 Years · Female only
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2016
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Mar 25, 2018 · Synced May 21, 2026, 11:54 PM EDT
Completed Phase 3 Interventional
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Jul 22, 2025 · Synced May 21, 2026, 11:54 PM EDT
Not listed No phase listed Observational
View directory record Official record
Conditions
Brain Disorders, Aicardi Syndrome
Interventions
Not listed
Lead sponsor
University of California, San Francisco
Other
Eligibility
Not listed
Enrollment
2,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2025
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Oct 9, 2023 · Synced May 21, 2026, 11:54 PM EDT
Terminated Phase 2Phase 3 Interventional Results available
View directory record Official record
Conditions
Rett Syndrome
Interventions
Trofinetide
Drug
Lead sponsor
ACADIA Pharmaceuticals Inc.
Industry
Eligibility
2 Years to 5 Years · Female only
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
7
States / cities
Birmingham, Alabama • Aurora, Colorado • Chicago, Illinois + 4 more
Source: ClinicalTrials.gov public record
Updated Sep 23, 2024 · Synced May 21, 2026, 11:54 PM EDT
Completed Phase 2 Interventional
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
AFQ056, Placebo
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years to 45 Years
Enrollment
175 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2013
U.S. locations
12
States / cities
Phoenix, Arizona • Sacramento, California • Decatur, Georgia + 9 more
Source: ClinicalTrials.gov public record
Updated Dec 22, 2020 · Synced May 21, 2026, 11:54 PM EDT
Recruiting No phase listed Observational
View directory record Official record
Conditions
Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias, Inflammatory Conditions
Interventions
data collection
Drug
Lead sponsor
Paul Szabolcs
Other
Eligibility
2 Months to 60 Years
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2028
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jan 12, 2026 · Synced May 21, 2026, 11:54 PM EDT
Completed No phase listed Observational
View directory record Official record
Conditions
Subglottic Stenosis (SGS), Pierre Robin Sequence (PRS), Micrognathia, Normal Controls From CT Scans of the Upper Airway
Interventions
Not listed
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
Up to 17 Years
Enrollment
39 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2015
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Apr 19, 2017 · Synced May 21, 2026, 11:54 PM EDT
Available No phase listed Expanded access
View directory record Official record
Conditions
Hematologic Malignancies, Inborn Errors of Metabolism Disorders, Immune Deficiencies
Interventions
CliniMACS CD34 Reagent System
Biological
Lead sponsor
Joanne Kurtzberg, MD
Other
Eligibility
Up to 65 Years
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Nov 19, 2025 · Synced May 21, 2026, 11:54 PM EDT
Completed Phase 3 Interventional Results available
View directory record Official record
Conditions
Rett Syndrome
Interventions
Trofinetide
Drug
Lead sponsor
ACADIA Pharmaceuticals Inc.
Industry
Eligibility
5 Years to 21 Years · Female only
Enrollment
154 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2022
U.S. locations
21
States / cities
Birmingham, Alabama • Phoenix, Arizona • La Jolla, California + 18 more
Source: ClinicalTrials.gov public record
Updated Apr 10, 2024 · Synced May 21, 2026, 11:54 PM EDT
Active, not recruiting Phase 2 Interventional
View directory record Official record
Conditions
Mucopolysaccharidosis Disorders, Hurler Syndrome, Hunter Syndrome, Maroteaux Lamy Syndrome, Sly Syndrome, Alpha-Mannosidosis, Fucosidosis, Aspartylglucosaminuria, Glycoprotein Metabolic Disorders, Sphingolipidoses, Recessive Leukodystrophies, Globoid Cell Leukodystrophy, Metachromatic Leukodystrophy, Niemann-Pick B, Niemann-Pick C Subtype 2, Sphingomyelin Deficiency, Peroxisomal Disorders, Adrenoleukodystrophy With Cerebral Involvement, Zellweger Syndrome, Neonatal Adrenoleukodystrophy, Infantile Refsum Disease, Acyl-CoA Oxidase Deficiency, D-Bifunctional Enzyme Deficiency, Multifunctional Enzyme Deficiency, Alpha-methylacyl-CoA Racmase Deficiency, Mitochondrial Neurogastrointestingal Encephalopathy, Severe Osteopetrosis, Hereditary Leukoencephalopathy With Axonal Spheroids (HDLS; CSF1R Mutation), Inherited Metabolic Disorders
Interventions
Stem Cell Transplantation, IMD Preparative Regimen, Osteopetrosis Only Preparative Regimen, Osteopetrosis Haploidentical Only Preparative Regimen, cALD SR-A (Standard-Risk, Regimen A), cALD SR-B (Standard-Risk, Regimen B), cALD HR-D (High-Risk, Regimen C), cALD HR-D (High-Risk, Regimen D)
Biological · Drug
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Up to 55 Years
Enrollment
149 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2029
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Jan 6, 2026 · Synced May 21, 2026, 11:54 PM EDT
Withdrawn No phase listed Observational
View directory record Official record
Conditions
Autism, Autism Spectrum Disorder, Autistic Disorder, Autism, Akinetic, Autism; Atypical, Autism; Psychopathy, Autism Fragile Syndrome X, Autism With High Cognitive Abilities, Autism-Related Speech Delay, Autism, Susceptibility to, 6, Autism Spectrum Disorder High-Functioning, Autistic Thinking, Autism, Susceptibility to, X-Linked 6, Autistic Behavior
Interventions
No Intervention
Other
Lead sponsor
ProgenaBiome
Other
Eligibility
6 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2030
U.S. locations
1
States / cities
Ventura, California
Source: ClinicalTrials.gov public record
Updated Jun 4, 2025 · Synced May 21, 2026, 11:54 PM EDT
Completed Phase 1 Interventional
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
AZD7325 (High-Dose), AZD7325 (Low-Dose), Placebo oral capsule
Drug
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
18 Years to 50 Years
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Feb 7, 2021 · Synced May 21, 2026, 11:54 PM EDT
Withdrawn Phase 2Phase 3 Interventional
View directory record Official record
Conditions
Behavioral Manifestations of Lesch-Nyhan Disease
Interventions
sapropterin
Drug
Lead sponsor
University of California, San Diego
Other
Eligibility
4 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2010
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Aug 1, 2019 · Synced May 21, 2026, 11:54 PM EDT
Completed Phase 1Phase 2 Interventional
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
NPL-2009
Drug
Lead sponsor
Neuropharm
Industry
Eligibility
18 Years to 45 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008
U.S. locations
2
States / cities
Sacramento, California • Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Apr 26, 2012 · Synced May 21, 2026, 11:54 PM EDT
Completed Phase 2 Interventional Results available
View directory record Official record
Conditions
Fragile X Syndrome (FXS)
Interventions
OV101 (gaboxadol)
Drug
Lead sponsor
Healx AI
Industry
Eligibility
13 Years to 22 Years · Male only
Enrollment
36 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
6
States / cities
Sacramento, California • Aurora, Colorado • Chicago, Illinois + 3 more
Source: ClinicalTrials.gov public record
Updated Jan 22, 2024 · Synced May 21, 2026, 11:54 PM EDT
Completed Phase 1 Interventional
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Dec 7, 2020 · Synced May 21, 2026, 11:54 PM EDT
Available No phase listed Expanded access
View directory record Official record
Conditions
Hunter Syndrome
Interventions
Idursulfase-IT
Drug
Lead sponsor
Takeda
Industry
Eligibility
Male only
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
17
States / cities
Phoenix, Arizona • Oakland, California • Wilmington, Delaware + 14 more
Source: ClinicalTrials.gov public record
Updated Apr 12, 2026 · Synced May 21, 2026, 11:54 PM EDT
Completed No phase listed Observational
View directory record Official record
Conditions
Autistic Disorder, Pervasive Developmental Disorder, Asperger Syndrome, Childhood Disintegrative Disorder, Rett Syndrome
Interventions
Not listed
Lead sponsor
University of Mississippi Medical Center
Other
Eligibility
Not listed
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007
U.S. locations
1
States / cities
Jackson, Mississippi
Source: ClinicalTrials.gov public record
Updated Nov 6, 2007 · Synced May 21, 2026, 11:54 PM EDT
Recruiting No phase listed Observational
View directory record Official record
Conditions
AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency, AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency, TPMT, OMIM *187680, Thoipurines, Poor Metabolism of, IMPDH1, OMIM *146690, Retinitis Pigmentosa Type 10, Leber Congenital Amauriosis Type 11, APRT, OMIM *102600, Adenine Phosphoribosyltransferase Deficiency, HPRT1, OMIM *308000 Lesch-Nyhan Disease, XDH, OMIM *607633, Xanthinuria Type 1, SLC2A9, OMIM *606142 Hypouricemia, SLC22A12, OMIM *607096 Hypouricemia, PRPS1 Def, OMIM *311850, Arts Syndrome; Charcot-Marie-Tooth Disease, PRPS1 SA, OMIM *311850 Gout, PRPS-related Phosphoribosylpyrophosphate Synthetase Superactivity, AMPD2, OMIM *102771, Spastic Paraplegia 63; Pontocerebellar Hypoplasia, ITPA, OMIM *147520, Inosine Triphosphatase Deficiency; Developmental and Epileptic Encephalopathy 35, ADSL, OMIM *608222, Adenylosuccinate Lyase Deficiency, PNP, OMIM *164050, Nucleoside Phosphorylase Deficiency, ADA2, OMIM *607575,Sneddon Syndrome; VAIHS, CAD, *1140120, Developmental and Epileptic Encephalopathy, UPB1, OMIM *606673, Beta-ureidopropionase Deficiency, DPYS, OMIM *613326, Dihydropyrimidinase Deficiency, DPYD, OMIM *274270, Dihydropyrimidine Dehydrogenase Deficiency, DHODH, OMIM *126064, Miller Syndrome (Postaxial Acrofacial Dysostosis), UMPS, OMIM *613891, Orotic Aciduria, NT5C3A<TAB>, OMIM *606224, Anemia, Hemolytic, Due to UMPH1 Deficiency, UNG, OMIM *191525, Hyper-IgM Syndrome 5, AICDA, OMIM *605257, Immunodeficiency With Hyper-IgM, Type 2; HIGM2, Purine-Pyrimidine Metabolism, Metabolic Disease
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month to 100 Years
Enrollment
999 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2099
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 3, 2025 · Synced May 21, 2026, 11:54 PM EDT