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Showing 1–24 of 528 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Chromosome Abnormality Clear all
Not listed No phase listed Observational Accepts healthy volunteers

AnovaOS Network Powered Patient Registry

NCT05013944
View directory record Official record
Conditions
Infectious Disease, Neoplasms, Diseases of the Blood and Blood-Forming Organs and Certain Disorders Involving the Immune Mechanism (D50-D89), Endocrine, Nutritional and Metabolic Diseases (E00-E89), Mental and Behavioural Disorders, Diseases of the Nervous System, Diseases of the Eye and Adnexa, Diseases of the Ear and Mastoid Process, Diseases of the Circulatory System, Diseases of the Respiratory System, Diseases of the Digestive System, Diseases of the Skin and Subcutaneous Tissue, Diseases of the Musculoskeletal System and Connective Tissue, Diseases of the Genitourinary System, Pregnancy, Childbirth and the Puerperium, Certain Conditions Originating in the Perinatal Period, Congenital Malformations, Deformations and Chromosomal Abnormalities (Q00-Q99), Symptoms, Signs and Abnormal Clinical and Laboratory Findings, Not Elsewhere Classified, Injury, Poisoning and Certain Other Consequences of External Causes, External Causes of Morbidity and Mortality, Factors Influencing Health Status and Contact With Health Services
Interventions
Not listed
Lead sponsor
Anova Enterprises, Inc
Industry
Eligibility
18 Years and older
Enrollment
100,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2026
U.S. locations
1
States / cities
Arlington Heights, Illinois
Source: ClinicalTrials.gov public record
Updated Jan 29, 2024 · Synced Sep 10, 2026, 1:54 AM EDT
Not listed Phase 1Phase 2 Interventional

Metformin in Patients With Fragile X

NCT04141163
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
Metformin, Placebo oral tablet
Drug
Lead sponsor
Rowan University
Other
Eligibility
18 Years to 50 Years · Male only
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2021
U.S. locations
1
States / cities
Stratford, New Jersey
Source: ClinicalTrials.gov public record
Updated Oct 30, 2019 · Synced Sep 10, 2026, 1:54 AM EDT
Completed Not applicable Interventional Results available

Treatment Trial of Subclinical Hypothyroidism in Down Syndrome

NCT01832753
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Sep 5, 2019 · Synced Sep 10, 2026, 1:54 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

PWS Outcomes Assessment Study

NCT04102839
View directory record Official record
Conditions
Prader-Willi Syndrome
Interventions
Interview
Other
Lead sponsor
Soleno Therapeutics, Inc.
Industry
Eligibility
18 Years and older
Enrollment
59 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2021
U.S. locations
1
States / cities
Plymouth, Massachusetts
Source: ClinicalTrials.gov public record
Updated Nov 3, 2024 · Synced Sep 10, 2026, 1:54 AM EDT
Completed Not applicable Interventional Results available

Weight Management for Adolescents With IDD

NCT02561754
View directory record Official record
Conditions
Developmental Disabilities, Weight Loss, Body Weight, Down Syndrome, Body Weight Changes, Intellectual Disability
Interventions
Enhanced Stop Light Diet (eSLD), Conventional Diet (CD), Face-to-face (FTF), Technology (TECH), iPad with FaceTime
Dietary Supplement · Behavioral · Other
Lead sponsor
University of Kansas Medical Center
Other
Eligibility
13 Years to 21 Years
Enrollment
110 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2021
U.S. locations
2
States / cities
Kansas City, Kansas • Lawrence, Kansas
Source: ClinicalTrials.gov public record
Updated Feb 9, 2023 · Synced Sep 10, 2026, 1:54 AM EDT
Completed No phase listed Observational

Williams Syndrome (WS) and Supravalvar Aortic Stenosis (SVAS) DNA and Tissue Bank

NCT02706639
View directory record Official record
Conditions
Williams Syndrome, Supravalvular Aortic Stenosis, Cardiovascular Disease
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
1 Day to 85 Years
Enrollment
305 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2025
U.S. locations
3
States / cities
Bethesda, Maryland • St Louis, Missouri • Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Aug 27, 2026 · Synced Sep 10, 2026, 1:54 AM EDT
Enrolling by invitation No phase listed Observational

Computer Models of Airways in Children and Young Adults With Sleep Apnea and Down Syndrome

NCT01902407
View directory record Official record
Conditions
Down Syndrome, Obstructive Sleep Apnea
Interventions
Not listed
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
1 Year to 90 Years
Enrollment
73 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2028
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Sep 28, 2025 · Synced Sep 10, 2026, 1:54 AM EDT
Completed Phase 1 Interventional

Azacitidine (AZA) in Minimal Residual Disease (MRD) Chronic Myeloid Leukemia (CML)

NCT01460498
View directory record Official record
Conditions
Leukemia
Interventions
Azacitidine (AZA), Tyrosine kinase inhibitor (TKI), Azacitidine
Drug
Lead sponsor
M.D. Anderson Cancer Center
Other
Eligibility
16 Years and older
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2019
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Mar 4, 2020 · Synced Sep 10, 2026, 1:54 AM EDT
Not yet recruiting Not applicable Interventional

Prenatal Genetics Chatbot Trial: Prenatal GENEie

NCT07077707
View directory record Official record
Conditions
Genetic Counseling
Interventions
Prenatal GENEie Chatbot, In-person genetic counseling
Other
Lead sponsor
Women and Infants Hospital of Rhode Island
Other
Eligibility
18 Years to 55 Years · Female only
Enrollment
1,470 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2029
U.S. locations
1
States / cities
Providence, Rhode Island
Source: ClinicalTrials.gov public record
Updated Jul 27, 2025 · Synced Sep 10, 2026, 1:54 AM EDT
Completed No phase listed Observational

Down Syndrome Biomarker Initiative (DSBI)

NCT02141971
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated May 1, 2017 · Synced Sep 10, 2026, 1:54 AM EDT
Completed Phase 2 Interventional Results available

Intranasal Oxytocin vs. Placebo for the Treatment of Hyperphagia in Prader-Willi Syndrome

NCT03197662
View directory record Official record
Conditions
Prader-Willi Syndrome, Hyperphagia
Interventions
Intranasal Oxytocin (IN-OXT), Matched Placebo
Drug
Lead sponsor
Eric Hollander
Other
Eligibility
5 Years to 17 Years
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2022
U.S. locations
1
States / cities
The Bronx, New York
Source: ClinicalTrials.gov public record
Updated Feb 6, 2025 · Synced Sep 10, 2026, 1:54 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Feasibility and Dose Tolerability of HD-tDCS in Healthy Adults and Children With Down Syndrome

NCT02481765
View directory record Official record
Conditions
Down Syndrome
Interventions
High definition transcranial direct current stimulation
Device
Lead sponsor
University of Wisconsin, Madison
Other
Eligibility
18 Years to 45 Years
Enrollment
5 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2016
U.S. locations
1
States / cities
Madison, Wisconsin
Source: ClinicalTrials.gov public record
Updated Feb 10, 2020 · Synced Sep 10, 2026, 1:54 AM EDT
Active, not recruiting Phase 2Phase 3 Interventional

Open Label Extension to Assess the Long-Term Safety and Tolerability of ZYN002 in Children and Adolescents With FXS

NCT03802799
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated May 26, 2026 · Synced Sep 10, 2026, 1:54 AM EDT
Withdrawn No phase listed Observational

Adaptive Behavior Assessment of Men With 49, XXXXY, Klinefelter Syndrome

NCT00347464
View directory record Official record
Conditions
Klinefelter Syndrome
Interventions
Not listed
Lead sponsor
University of Wisconsin, Madison
Other
Eligibility
2 Years to 21 Years · Male only
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2008
U.S. locations
1
States / cities
Madison, Wisconsin
Source: ClinicalTrials.gov public record
Updated Dec 2, 2015 · Synced Sep 10, 2026, 1:54 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Social Support and Stress Reduction for Caregivers of Young Adults With IDD

NCT05938998
View directory record Official record
Conditions
Burden, Caregiver
Interventions
Yoga; Support Group
Behavioral
Lead sponsor
University of Kansas Medical Center
Other
Eligibility
18 Years and older
Enrollment
20 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2024
U.S. locations
1
States / cities
Kansas City, Kansas
Source: ClinicalTrials.gov public record
Updated Sep 11, 2025 · Synced Sep 10, 2026, 1:54 AM EDT
Completed Phase 2 Interventional

A Safety Study of NNZ-2566 in Patients With Fragile X Syndrome

NCT01894958
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Feb 4, 2018 · Synced Sep 10, 2026, 1:54 AM EDT
Completed Phase 2 Interventional

A Study of RO4917523 in Patients With Fragile X Syndrome

NCT01517698
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
Placebo, RO4917523 0.5 mg, RO4917523 1.5 mg
Drug
Lead sponsor
Hoffmann-La Roche
Industry
Eligibility
14 Years to 50 Years
Enrollment
185 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2014
U.S. locations
20
States / cities
Phoenix, Arizona • Long Beach, California • Sacramento, California + 17 more
Source: ClinicalTrials.gov public record
Updated Jul 10, 2016 · Synced Sep 10, 2026, 1:54 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Phenotypic Specific Communication Intervention for Children With Down Syndrome

NCT02158390
View directory record Official record
Conditions
Language Impairment, Down Syndrome
Interventions
Jasper-EMT with words and AAC
Behavioral
Lead sponsor
Vanderbilt University
Other
Eligibility
30 Months to 54 Months
Enrollment
78 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2018
U.S. locations
2
States / cities
Los Angeles, California • Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Jul 11, 2018 · Synced Sep 10, 2026, 1:54 AM EDT
Not yet recruiting Phase 2 Interventional

Use of N-Acetylcysteine in the Treatment of Repetitive and Self-Injurious Behaviors in Cornelia de Lange Syndrome

NCT04381897
View directory record Official record
Conditions
Cornelia de Lange Syndrome
Interventions
N-acetyl cysteine, Placebo
Drug · Other
Lead sponsor
Johns Hopkins University
Other
Eligibility
13 Years to 35 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2027
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 13, 2026 · Synced Sep 10, 2026, 1:54 AM EDT
Recruiting No phase listed Observational

Specimen Collection From Pregnant Women at Increased Risk for Fetal Aneuploidy

NCT01429389
View directory record Official record
Conditions
Down Syndrome, Fetal Aneuploidy
Interventions
Not listed
Lead sponsor
Sequenom, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
2,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2028
U.S. locations
12
States / cities
Birmingham, Alabama • Los Angeles, California • San Diego, California + 6 more
Source: ClinicalTrials.gov public record
Updated Sep 8, 2026 · Synced Sep 10, 2026, 1:54 AM EDT
Not yet recruiting Phase 1 Interventional

Escalating Doses of Memantine in Down Syndrome (MEDS-123)

NCT07531940
View directory record Official record
Conditions
Down Syndrome, Intellectual Disability
Interventions
Memantine
Drug
Lead sponsor
University Hospitals Cleveland Medical Center
Other
Eligibility
15 Years to 32 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
1
States / cities
Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated May 10, 2026 · Synced Sep 10, 2026, 1:54 AM EDT
Recruiting Phase 3 Interventional

REVEAL: A Phase 3 Study of Obudanersen (ION582) in Angelman Syndrome

NCT06914609
View directory record Official record
Conditions
Angelman Syndrome
Interventions
obudanersen, Placebo
Drug
Lead sponsor
Ionis Pharmaceuticals, Inc.
Industry
Eligibility
2 Years to 50 Years
Enrollment
158 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2030
U.S. locations
18
States / cities
Los Angeles, California • San Diego, California • Aurora, Colorado + 13 more
Source: ClinicalTrials.gov public record
Updated Aug 27, 2026 · Synced Sep 10, 2026, 1:54 AM EDT
Completed No phase listed Observational

Study of the Experiences and Needs of Parents Continuing a Pregnancy Following a Prenatal Diagnosis of Holopresencephaly

NCT00005016
View directory record Official record
Conditions
Holoprosencephaly
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
Not listed
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2001
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 3, 2008 · Synced Sep 10, 2026, 1:54 AM EDT
Terminated Not applicable Interventional Accepts healthy volunteers

Blood Flow in Individuals With Down Syndrome

NCT03590665
View directory record Official record
Conditions
Down Syndrome
Interventions
Hand grip exercise and lower body negative pressure
Other
Lead sponsor
University of Illinois at Chicago
Other
Eligibility
18 Years to 45 Years
Enrollment
21 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2019
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Jul 14, 2019 · Synced Sep 10, 2026, 1:54 AM EDT