Independent directory Public ClinicalTrials.gov records United States
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ClinicalTrials.gov public records Last synced Jun 25, 2026, 5:26 PM EDT

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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
Conditions
Obstructive Sleep Apnea, Down Syndrome
Interventions
Atomoxetine and oxybutynin (ato-oxy)
Drug
Lead sponsor
University of Arizona
Other
Eligibility
6 Years to 17 Years
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2022
U.S. locations
1
States / cities
Tucson, Arizona
Conditions
Down Syndrome
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years and older
Enrollment
546 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2014
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Hypofibrinogenemia, Afibrinogenemia, Bleeding Disorders
Interventions
RiaStAP, Saline
Drug
Lead sponsor
Nicklaus Children's Hospital f/k/a Miami Children's Hospital
Other
Eligibility
1 Day to 1 Year
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2020
U.S. locations
2
States / cities
Miami, Florida
Conditions
Depression, Anxiety, Transition
Interventions
Adapted Teens Achieving Mastery over Stress (TEAMS) Treatment, Adapted Teens Achieving Mastery over Stress (TEAMS) Prevention, Adapted Competent Adulthood Transition with Cognitive-behavioral & Interpersonal Training (CATCH-IT), Strengthening Families, Virtual psycho-educational discussion groups for caregivers and participants, Maternal Child Health Bureau (MCHB) Care Coordination
Behavioral · Other
Lead sponsor
University of Illinois at Chicago
Other
Eligibility
13 Years to 20 Years
Enrollment
780 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2028
U.S. locations
1
States / cities
Chicago, Illinois
Terminated No phase listed Observational Accepts healthy volunteers

Genetic Disease Gene Identification

NCT00916903
Conditions
Congenital Vertical Talus, Familial Encephalopathy With Neuroserpin Inclusion Bodies, Idiopathic Generalised Epilepsy, Familial Dementia, X-linked Mental Retardation
Interventions
Not listed
Lead sponsor
State University of New York - Upstate Medical University
Other
Eligibility
6 Months and older
Enrollment
176 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2005 – 2015
U.S. locations
1
States / cities
Syracuse, New York
Conditions
Adrenomyeloneuropathy, Adrenoleukodystrophy
Interventions
Lorenzo's oil
Drug
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
18 Years and older
Enrollment
240 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2007
U.S. locations
1
States / cities
Baltimore, Maryland
Conditions
Williams Syndrome, Lipedema
Interventions
Not listed
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
18 Years to 70 Years
Enrollment
144 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2023
U.S. locations
1
States / cities
Boston, Massachusetts
Completed Not applicable Interventional Results available

Treatment Trial of Subclinical Hypothyroidism in Down Syndrome

NCT01832753
Conditions
Down Syndrome, Subclinical Hypothyroidism
Interventions
Levothyroxine
Drug
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
8 Years to 20 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2017
U.S. locations
2
States / cities
Washington D.C., District of Columbia • Philadelphia, Pennsylvania
Conditions
Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome
Interventions
Not listed
Lead sponsor
Ionis Pharmaceuticals, Inc.
Industry
Eligibility
1 Month to 65 Years · Male only
Enrollment
29 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
5
States / cities
San Diego, California • Saint Paul, Minnesota • Philadelphia, Pennsylvania + 2 more
Conditions
Intellectual Disability, Developmental Disability
Interventions
Written language intervention
Behavioral
Lead sponsor
Baylor University
Other
Eligibility
18 Years to 26 Years
Enrollment
55 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
1
States / cities
Waco, Texas
Conditions
Rett Syndrome, MECP2 Duplication dIsorder, CDKL5 Disorder, FOXG1 Syndrome
Interventions
Not listed
Lead sponsor
University of Alabama at Birmingham
Other
Eligibility
Not listed
Enrollment
1,044 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2021
U.S. locations
14
States / cities
Birmingham, Alabama • Oakland, California • San Diego, California + 11 more
Completed Phase 2 Interventional Accepts healthy volunteers Results available

Understanding the Role of Gut Microbiota in Hyperphagia in Prader-Willi Syndrome

NCT05541003
Conditions
Prader-Willi Syndrome, Obesity
Interventions
NBT-NM108
Drug
Lead sponsor
Rutgers, The State University of New Jersey
Other
Eligibility
18 Years to 35 Years
Enrollment
12 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023
U.S. locations
1
States / cities
New Brunswick, New Jersey
Conditions
Literacy, Communication, Nonverbal
Interventions
ALLSTAR
Behavioral
Lead sponsor
Penn State University
Other
Eligibility
5 Years to 12 Years
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2031
U.S. locations
1
States / cities
State College, Pennsylvania
Completed Phase 1Phase 2 Interventional Results available

Copper Histidine Therapy for Menkes Diseases

NCT00001262
Conditions
Kinky Hair Syndrome
Interventions
Copper Histidine
Drug
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
Not listed
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1990 – 2013
U.S. locations
1
States / cities
Bethesda, Maryland
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
Conditions
Down Syndrome, Alzheimer's Disease
Interventions
Not listed
Lead sponsor
Michael Rafii
Other
Eligibility
30 Years to 60 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2017
U.S. locations
1
States / cities
La Jolla, California
Conditions
Autistic Spectrum Disorder, Patient Empowerment, Menstrual Discomfort
Interventions
Period Kit
Other
Lead sponsor
Tufts Medical Center
Other
Eligibility
5 Years to 17 Years · Female only
Enrollment
50 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2024
U.S. locations
1
States / cities
Boston, Massachusetts
Terminated Not applicable Interventional Results available

Down Syndrome Speech Intelligibility Diagnostic Treatment Study

NCT04059354
Conditions
Down Syndrome
Interventions
Speech therapy addressing phonology and motor learning
Behavioral
Lead sponsor
University of Wisconsin, Madison
Other
Eligibility
7 Years to 16 Years · Male only
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2020
U.S. locations
1
States / cities
Madison, Wisconsin
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
Conditions
Rett Syndrome
Interventions
Not listed
Lead sponsor
University of South Florida
Other
Eligibility
3 Years to 18 Years · Female only
Enrollment
146 participants
Timeline
2017 – 2020
U.S. locations
1
States / cities
Tampa, Florida
Conditions
AMN, AMN Gene Mutation, X-ALD
Interventions
SBT101, Imitation Procedure
Genetic · Procedure
Lead sponsor
SwanBio Therapeutics, Inc.
Industry
Eligibility
18 Years to 65 Years · Male only
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2025
U.S. locations
1
States / cities
Worcester, Massachusetts
Recruiting Not applicable Interventional

Harnessing Communication Preferences

NCT07278544
Conditions
Intellectual Disability, Autism Spectrum Disorder, Self-Injurious Behavior, Communication Disabilities, Communication, Nonverbal
Interventions
PrefFCT, NonPrefFCT
Behavioral
Lead sponsor
Joel E. Ringdahl
Other
Eligibility
2 Years to 90 Years
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2031
U.S. locations
2
States / cities
Athens, Georgia • Iowa City, Iowa
Completed Not applicable Interventional Accepts healthy volunteers Results available

Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy

NCT01594853
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
Completed Not applicable Interventional Results available

Dietary Supplements for the Treatment of Angelman Syndrome

NCT00348933
Conditions
Angelman Syndrome, Nervous System Diseases
Interventions
Betaine, Creatine, Metafolin, Vitamin B12
Drug
Lead sponsor
University of California, San Diego
Other
Eligibility
1 Day to 5 Years
Enrollment
90 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2010
U.S. locations
4
States / cities
San Diego, California • Boston, Massachusetts • Greenwood, South Carolina + 1 more