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ClinicalTrials.gov public records Last synced Oct 20, 2026, 10:16 PM EDT

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Showing 97–120 of 559 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Chromosomal Abnormalities Clear all
Completed Not applicable Interventional

A Bicycle Training Intervention

NCT02046889
View directory record Official record
Conditions
Autism Spectrum Disorder, Down Syndrome
Interventions
Bicycle Training Intervention
Behavioral
Lead sponsor
University of Michigan
Other
Eligibility
9 Years to 18 Years
Enrollment
155 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2012
U.S. locations
3
States / cities
Southbend, Indiana • Ann Arbor, Michigan • Grand Rapids, Michigan
Source: ClinicalTrials.gov public record
Updated Jan 28, 2014 · Synced Oct 20, 2026, 10:16 PM EDT
Completed Phase 2 Interventional

A Study of RG1662 in Adults and Adolescents With Down Syndrome (CLEMATIS)

NCT02024789
View directory record Official record
Conditions
Down Syndrome
Interventions
Placebo, RG1662
Drug
Lead sponsor
Hoffmann-La Roche
Industry
Eligibility
12 Years to 30 Years
Enrollment
173 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2016
U.S. locations
9
States / cities
La Jolla, California • Sacramento, California • Decatur, Georgia + 6 more
Source: ClinicalTrials.gov public record
Updated Oct 25, 2017 · Synced Oct 20, 2026, 10:16 PM EDT
Terminated Phase 3 Interventional

Double-Blind, Placebo Controlled, Phase 3 Trial of ZGN-440 (Beloranib) in Obese Subjects With Prader-Willi Syndrome

NCT02179151
View directory record Official record
Conditions
Prader-Willi Syndrome, Obesity
Interventions
ZGN-440 for Injectable Suspension, ZGN-440 Placebo for Injectable Suspension
Drug
Lead sponsor
Zafgen, Inc.
Industry
Eligibility
12 Years to 65 Years
Enrollment
108 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2016
U.S. locations
15
States / cities
Sacramento, California • San Diego, California • Aurora, Colorado + 12 more
Source: ClinicalTrials.gov public record
Updated Jan 26, 2017 · Synced Oct 20, 2026, 10:16 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

A Study of the Genetic Analysis of Brain Disorders

NCT00645645
View directory record Official record
Conditions
Holoprosencephaly
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month and older
Enrollment
5,735 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2008 – 2021
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 14, 2021 · Synced Oct 20, 2026, 10:16 PM EDT
Completed Phase 2 Interventional

A Study of RO4917523 in Pediatric Patients With Fragile X Syndrome

NCT01750957
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Aug 11, 2016 · Synced Oct 20, 2026, 10:16 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Depressed AIRE Gene Expression Causes Immune Cell Dysfunction & Autoimmunity in Down Syndrome

NCT02421276
View directory record Official record
Conditions
Down Syndrome, Polyendocrinopathies, Autoimmune, Respiratory Tract Infections, Autoimmunity
Interventions
Phlebotomy
Other
Lead sponsor
University of Colorado, Denver
Other
Eligibility
Up to 22 Years
Enrollment
45 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2018
U.S. locations
1
States / cities
Denver, Colorado
Source: ClinicalTrials.gov public record
Updated Apr 19, 2022 · Synced Oct 20, 2026, 10:16 PM EDT
Recruiting Not applicable Interventional

Measuring Aided Language Development

NCT06512168
View directory record Official record
Conditions
Down Syndrome, Cerebral Palsy, Apraxia of Speech, Speech Sound Disorder, Speech Disorders in Children, Speech and Language Disorder
Interventions
AAC Generative Language Intervention
Behavioral
Lead sponsor
University of Central Florida
Other
Eligibility
42 Months to 60 Months
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
1
States / cities
Orlando, Florida
Source: ClinicalTrials.gov public record
Updated May 16, 2025 · Synced Oct 20, 2026, 10:16 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Risk of Diabetes in Young Turner Syndrome Patients

NCT02160717
View directory record Official record
Conditions
Turner Syndrome
Interventions
Not listed
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
6 Years to 22 Years · Female only
Enrollment
120 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2017
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Aug 23, 2017 · Synced Oct 20, 2026, 10:16 PM EDT
Recruiting Not applicable Interventional

Sleep Intervention and Quality of Life in Down Syndrome

NCT06783725
View directory record Official record
Conditions
Down Syndrome, Down Syndrome (Trisomy 21)
Interventions
Mindfulness-Based Therapy for Insomnia, Wait-list control
Behavioral
Lead sponsor
University of Alabama at Birmingham
Other
Eligibility
12 Months to 30 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
1
States / cities
Birmingham, Alabama
Source: ClinicalTrials.gov public record
Updated Mar 20, 2026 · Synced Oct 20, 2026, 10:16 PM EDT
Active, not recruiting Phase 2 Interventional

Evaluating the Neurophysiologic and Clinical Effects of Single Dose Drug Challenge

NCT05418049
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
Baclofen, Memantine, Roflumilast, Placebo
Drug
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
18 Years to 45 Years
Enrollment
45 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2026
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Dec 23, 2025 · Synced Oct 20, 2026, 10:16 PM EDT
Recruiting No phase listed Observational

Natural History of Noncirrhotic Portal Hypertension

NCT02417740
View directory record Official record
Conditions
Cystic Fibrosis, Immunologic Deficiency Syndrome, Turner Syndrome, Congenital Hepatic Fibrosis, Idiopathic Non-Cirrhotic Portal Hypertension
Interventions
Not listed
Lead sponsor
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
NIH
Eligibility
12 Years to 100 Years
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2029
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 15, 2026 · Synced Oct 20, 2026, 10:16 PM EDT
Not listed No phase listed Observational

Non-Invasive Screening for Fetal Aneuploidy

NCT02317965
View directory record Official record
Conditions
Down Syndrome, Edwards Syndrome
Interventions
Maternal Blood Draw
Other
Lead sponsor
Progenity, Inc.
Industry
Eligibility
18 Years to 54 Years · Female only
Enrollment
340 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2018
U.S. locations
10
States / cities
Campbell, California • Long Beach, California • Denver, Colorado + 6 more
Source: ClinicalTrials.gov public record
Updated Aug 28, 2018 · Synced Oct 20, 2026, 10:16 PM EDT
Completed Phase 1Phase 2 Interventional Results available

Rivastigmine Study in Adolescents With Down Syndrome

NCT01084135
View directory record Official record
Conditions
Down Syndrome
Interventions
Rivastigmine, Liquid Placebo
Drug · Other
Lead sponsor
Duke University
Other
Eligibility
10 Years to 17 Years
Enrollment
42 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2014
U.S. locations
2
States / cities
Baltimore, Maryland • Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Apr 6, 2015 · Synced Oct 20, 2026, 10:16 PM EDT
Terminated Phase 3 Interventional Results available

Effects of PTH Replacement on Bone in Hypoparathyroidism

NCT00395538
View directory record Official record
Conditions
Hypoparathyroidism, DiGeorge Syndrome
Interventions
PTH 1-34
Drug
Lead sponsor
National Institute of Dental and Craniofacial Research (NIDCR)
NIH
Eligibility
18 Years to 70 Years
Enrollment
46 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2017
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 28, 2019 · Synced Oct 20, 2026, 10:16 PM EDT
Terminated No phase listed Observational Accepts healthy volunteers

Neuromuscular Characteristics of Individuals With Down Syndrome (DS)

NCT00643955
View directory record Official record
Conditions
Down Syndrome
Interventions
muscle strength
Other
Lead sponsor
State University of New York - Upstate Medical University
Other
Eligibility
18 Years to 45 Years
Enrollment
15 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2008
U.S. locations
1
States / cities
Syracuse, New York
Source: ClinicalTrials.gov public record
Updated Dec 21, 2023 · Synced Oct 20, 2026, 10:16 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Pilot Study of Startle-response Test to Assess Transcranial Direct Current Stimulation-induced Modulation of Hyperphagia in Prader-Willi Syndrome

NCT01863017
View directory record Official record
Conditions
Hyperphagia, Prader-Willi Syndrome
Interventions
tDCS
Device
Lead sponsor
University of Kansas Medical Center
Other
Eligibility
18 Years to 64 Years
Enrollment
31 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2016
U.S. locations
3
States / cities
Kansas City, Kansas • Boston, Massachusetts • Dousman, Wisconsin
Source: ClinicalTrials.gov public record
Updated Apr 26, 2019 · Synced Oct 20, 2026, 10:16 PM EDT
Completed Phase 2Phase 3 Interventional

Evaluating the Effects of Tasimelteon vs Placebo on Sleep Disturbances in SMS

NCT02231008
View directory record Official record
Conditions
Smith-Magenis Syndrome, Circadian
Interventions
tasimelteon, placebo
Drug
Lead sponsor
Vanda Pharmaceuticals
Industry
Eligibility
3 Years to 65 Years
Enrollment
49 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2022
U.S. locations
4
States / cities
Santa Monica, California • Baltimore, Maryland • Chevy Chase, Maryland + 1 more
Source: ClinicalTrials.gov public record
Updated Nov 18, 2022 · Synced Oct 20, 2026, 10:16 PM EDT
Recruiting Phase 2 Interventional

Down Syndrome Obstructive Sleep Apnea

NCT06043440
View directory record Official record
Conditions
Down Syndrome, Obstructive Sleep Apnea
Interventions
Oxygen
Drug
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
5 Years to 18 Years
Enrollment
230 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2027
U.S. locations
7
States / cities
Los Angeles, California • Ann Arbor, Michigan • Cincinnati, Ohio + 4 more
Source: ClinicalTrials.gov public record
Updated Sep 30, 2026 · Synced Oct 20, 2026, 10:16 PM EDT
Completed Phase 1Phase 2 Interventional Results available

Phase I/II Thymus Transplantation With Immunosuppression #950

NCT00579527
View directory record Official record
Conditions
DiGeorge Anomaly, Complete DiGeorge Anomaly, Complete Atypical DiGeorge Anomaly, Complete DiGeorge Syndrome, Complete Atypical DiGeorge Syndrome
Interventions
Cultured Thymus Tissue for Implantation (CTTI), Cultured Thymus Tissue Implantation and Parental Parathyroid Transplantation, Blood Draw, Rabbit anti-thymocyte globulin, Cyclosporine, Tacrolimus, Methylprednisolone or Prednisolone, Daclizumab, Mycophenolate mofetil
Biological · Other · Procedure + 1 more
Lead sponsor
Sumitomo Pharma Switzerland GmbH
Industry
Eligibility
Not listed
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2017
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Mar 25, 2022 · Synced Oct 20, 2026, 10:16 PM EDT
Not listed No phase listed Observational

Pulmonary Health in Children With Down Syndrome

NCT04398862
View directory record Official record
Conditions
Down Syndrome, Dysphagia, Oropharyngeal
Interventions
Not listed
Lead sponsor
University of Colorado, Denver
Other
Eligibility
3 Years to 18 Years
Enrollment
75 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2024
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Jan 26, 2024 · Synced Oct 20, 2026, 10:16 PM EDT
Completed Phase 3 Interventional

Open-Label Extension Study of DCCR in Patients With Prader-Willi Syndrome

NCT05701774
View directory record Official record
Conditions
Prader-Willi Syndrome
Interventions
DCCR
Drug
Lead sponsor
Soleno Therapeutics, Inc.
Industry
Eligibility
4 Years and older
Enrollment
77 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2026
U.S. locations
17
States / cities
Orange, California • Palo Alto, California • San Diego, California + 14 more
Source: ClinicalTrials.gov public record
Updated Oct 13, 2026 · Synced Oct 20, 2026, 10:16 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Treatment of Self-Injurious Behavior in Individuals With Prader-Willi Syndrome

NCT00065923
View directory record Official record
Conditions
Prader-Willi Syndrome, Self-Injurious Behavior
Interventions
Topiramate
Drug
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
18 Years to 66 Years
Enrollment
10 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2002
U.S. locations
1
States / cities
Gainesville, Florida
Source: ClinicalTrials.gov public record
Updated May 1, 2013 · Synced Oct 20, 2026, 10:16 PM EDT
Completed No phase listed Observational

WS-SAVE Study (Williams Syndrome Skin and Vessel Elasticity Study)

NCT02692846
View directory record Official record
Conditions
Williams Syndrome, Cardiovascular Disease, Multisystem Developmental Disorder, Elastin Gene Deletion, Hypertension
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
1 Year to 70 Years
Enrollment
43 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 13, 2026 · Synced Oct 20, 2026, 10:16 PM EDT
Completed Phase 2 Interventional Results available

A Study of OV101 in Individuals With Fragile X Syndrome

NCT03697161
View directory record Official record
Conditions
Fragile X Syndrome (FXS)
Interventions
OV101 (gaboxadol)
Drug
Lead sponsor
Ovid Therapeutics Inc.
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 23, 2024 · Synced Oct 20, 2026, 10:16 PM EDT