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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Chromosomal Abnormalities Clear all
Completed Phase 1 Interventional Accepts healthy volunteers

Study of Acamprosate in Fragile x Syndrome

NCT01911455
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
acamprosate, Placebo
Drug
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
5 Years to 23 Years
Enrollment
46 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2018
U.S. locations
2
States / cities
Chicago, Illinois • Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Feb 2, 2021 · Synced Jul 22, 2026, 2:27 PM EDT
Terminated Phase 2 Interventional Results available

Cannabidiol Oral Solution for the Treatment of Patients With Prader-Willi Syndrome

NCT02844933
View directory record Official record
Conditions
Prader-Willi Syndrome
Interventions
Cannabidiol, Placebo
Drug
Lead sponsor
Radius Pharmaceuticals, Inc.
Industry
Eligibility
8 Years to 17 Years
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2019
U.S. locations
7
States / cities
Tucson, Arizona • San Diego, California • Iowa City, Iowa + 4 more
Source: ClinicalTrials.gov public record
Updated Jul 31, 2023 · Synced Jul 22, 2026, 2:27 PM EDT
Not listed No phase listed Observational

Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay

NCT01616589
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
Not listed
Lead sponsor
Esoterix Genetic Laboratories, LLC
Industry
Eligibility
Not listed
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012
U.S. locations
1
States / cities
Westborough, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jun 11, 2012 · Synced Jul 22, 2026, 2:27 PM EDT
Completed Phase 1 Interventional

Oxytocin Trial in Prader-Willi Syndrome

NCT02013258
View directory record Official record
Conditions
Prader Willi Syndrome
Interventions
Intranasal oxytocin, Placebo
Drug · Other
Lead sponsor
University of Florida
Other
Eligibility
5 Years to 11 Years
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015
U.S. locations
3
States / cities
Orange, California • Gainesville, Florida • Kansas City, Kansas
Source: ClinicalTrials.gov public record
Updated Apr 4, 2018 · Synced Jul 22, 2026, 2:27 PM EDT
Completed No phase listed Observational

Clinical Evaluation of the SEQureDx T21 Test In High Risk Pregnancies

NCT01555346
View directory record Official record
Conditions
Down Syndrome, Fetal Aneuploidy
Interventions
Not listed
Lead sponsor
Sequenom, Inc.
Industry
Eligibility
18 Years to 60 Years · Female only
Enrollment
3,062 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2015
U.S. locations
27
States / cities
Mobile, Alabama • Tucson, Arizona • Campbell, California + 24 more
Source: ClinicalTrials.gov public record
Updated Apr 19, 2016 · Synced Jul 22, 2026, 2:27 PM EDT
Recruiting Not applicable Interventional

Cooking Skills to Improve Long-Term Weight Loss in Young Adults With Intellectual Disabilities

NCT06961591
View directory record Official record
Conditions
Intellectual Disability, Overweight and Obesity
Interventions
Weight Loss Plus Cooking, Traditional Weight Loss
Behavioral
Lead sponsor
University of Kansas Medical Center
Other
Eligibility
18 Years to 35 Years
Enrollment
114 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2029
U.S. locations
1
States / cities
Kansas City, Kansas
Source: ClinicalTrials.gov public record
Updated Oct 5, 2025 · Synced Jul 22, 2026, 2:27 PM EDT
Active, not recruiting 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
83 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2028
U.S. locations
17
States / cities
Orange, California • Palo Alto, California • San Diego, California + 14 more
Source: ClinicalTrials.gov public record
Updated Apr 1, 2025 · Synced Jul 22, 2026, 2:27 PM EDT
Completed Not applicable Interventional

Life Skills Improved in Children With Down Syndrome After Using Assistive Technology

NCT05343468
View directory record Official record
Conditions
Down Syndrome, Adaptive Behavior, Quality of Life
Interventions
The MapHabit System
Device
Lead sponsor
MapHabit, Inc.
Industry
Eligibility
7 Years to 17 Years
Enrollment
26 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2021
U.S. locations
1
States / cities
Atlanta, Georgia
Source: ClinicalTrials.gov public record
Updated Feb 23, 2023 · Synced Jul 22, 2026, 2:27 PM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Physical Activity and Community EmPOWERment Project

NCT06740162
View directory record Official record
Conditions
Intellectual Disability, Neurodevelopmental Disorders, Autism Spectrum Disorder, Down Syndrome, Fragile X Syndrome, Cri-du-Chat Syndrome, De Lange Syndrome, Mental Retardation, X-Linked, Prader-Willi Syndrome, Rubinstein-Taybi Syndrome, Trisomy 13 Syndrome, WAGR Syndrome, Williams Syndrome
Interventions
PACE Program
Behavioral
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
18 Years and older
Enrollment
376 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2028
U.S. locations
2
States / cities
Fayetteville, Arkansas • Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Feb 22, 2026 · Synced Jul 22, 2026, 2:27 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 5, 2015 · Synced Jul 22, 2026, 2:27 PM EDT
Completed Phase 2 Interventional

The Effects of Hormones in Growth Hormone-Treated Girls With Turner Syndrome

NCT00001343
View directory record Official record
Conditions
Dwarfism, Turner's Syndrome
Interventions
Humatrope, Oxandrolone
Drug
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
10 Years to 14 Years · Female only
Enrollment
80 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1992 – 2007
U.S. locations
2
States / cities
Bethesda, Maryland • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jul 1, 2017 · Synced Jul 22, 2026, 2:27 PM EDT
Recruiting No phase listed Observational

Gonadal Tissue Freezing for Fertility Preservation in Individuals at Risk for Ovarian Dysfunction, Premature Ovarian Insufficiency and Clinically Indicated Gonadectomy

NCT04948658
View directory record Official record
Conditions
Turner Syndrome, Post-menarcheal Adolescents, Ovarian Disfunction, Galactosemia, Variations in Sex Characteristics, Differences in Sex Development
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
2 Years to 35 Years
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2030
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jun 24, 2026 · Synced Jul 22, 2026, 2:27 PM EDT
Completed Phase 2 Interventional Results available

Effects of Methylphenidate on Cellular Abnormalities in Children With Attention Deficit Hyperactivity Disorder (ADHD)

NCT00409708
View directory record Official record
Conditions
Attention Deficit Hyperactivity Disorder
Interventions
Extended Release Methylphenidate (Ritalin LA ) plus Behavior Therapy, Behavior Therapy
Drug · Behavioral
Lead sponsor
Novartis
Industry
Eligibility
6 Years to 12 Years
Enrollment
142 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2006
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated May 16, 2011 · Synced Jul 22, 2026, 2:27 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Examining Social, Emotional, and Cognitive Functioning in People With Fragile X and Down Syndromes

NCT00879515
View directory record Official record
Conditions
Anxiety Disorders, Child Developmental Disorders, Pervasive
Interventions
Not listed
Lead sponsor
University of California, Davis
Other
Eligibility
5 Years to 25 Years
Enrollment
511 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2005 – 2010
U.S. locations
1
States / cities
Sacramento, California
Source: ClinicalTrials.gov public record
Updated May 29, 2017 · Synced Jul 22, 2026, 2:27 PM EDT
Terminated Phase 2Phase 3 Interventional Results available

A Study to Assess RAD011 (Cannabidiol Oral Solution) for the Treatment of Participants With Prader-Willi Syndrome

NCT05098509
View directory record Official record
Conditions
Prader-Willi Syndrome
Interventions
RAD011, Placebo
Drug
Lead sponsor
Radius Pharmaceuticals, Inc.
Industry
Eligibility
8 Years to 65 Years
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022
U.S. locations
8
States / cities
Los Angeles, California • San Diego, California • Iowa City, Iowa + 5 more
Source: ClinicalTrials.gov public record
Updated Oct 18, 2023 · Synced Jul 22, 2026, 2:27 PM EDT
Completed Not applicable Interventional Results available

Study of Psychological and Motor Effects of Testosterone in Adolescents With XXY/Klinefelter Syndrome

NCT01585831
View directory record Official record
Conditions
Klinefelter Syndrome, XXY Syndrome
Interventions
Testosterone gel 1%, Placebo gel
Drug
Lead sponsor
University of Colorado, Denver
Other
Eligibility
8 Years to 18 Years · Male only
Enrollment
48 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2017
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Aug 9, 2021 · Synced Jul 22, 2026, 2:27 PM EDT
Terminated Not applicable Interventional Results available

Treatment of Single or Double Umbilical Cord Trans + Graft-versus-host Disease (GVHD) Prophylaxis w/ Tacrolimus & Mycophenolate Mofetil

NCT00608517
View directory record Official record
Conditions
Graft Versus Host Disease, Leukemia, Lymphoma, Multiple Myeloma and Plasma Cell Neoplasm, Myelodysplastic Syndromes
Interventions
anti-thymocyte globulin, cyclophosphamide, fludarabine phosphate, methylprednisolone, total-body irradiation
Biological · Drug · Radiation
Lead sponsor
Vanderbilt-Ingram Cancer Center
Other
Eligibility
Up to 50 Years
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2011
U.S. locations
4
States / cities
Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated May 19, 2014 · Synced Jul 22, 2026, 2:27 PM EDT
Completed Phase 1 Interventional

An Initial Study of AZD7325 in Adults With Fragile X Syndrome

NCT03140813
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 Jul 22, 2026, 2:27 PM EDT
Completed No phase listed Observational

MatErnal BLood IS Source to Accurately Diagnose Fetal Aneuploidy

NCT01122524
View directory record Official record
Conditions
Pregnant Women, Prenatal Care
Interventions
Not listed
Lead sponsor
Verinata Health, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
10,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2011
U.S. locations
11
States / cities
Los Angeles, California • San Francisco, California • Fort Collins, Colorado + 8 more
Source: ClinicalTrials.gov public record
Updated Oct 9, 2011 · Synced Jul 22, 2026, 2:27 PM EDT
Active, not recruiting Phase 3 Interventional Results available

A Study of Oral Asciminib Versus Other TKIs in Adult Patients With Newly Diagnosed Ph+ CML-CP

NCT04971226
View directory record Official record
Conditions
Chronic Myeloid Leukemia (CML) Philadelphia Chromosome Positive
Interventions
Imatinib, Nilotinib, Bosutinib, Dasatinib, Asciminib
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years to 100 Years
Enrollment
405 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2031
U.S. locations
13
States / cities
Denver, Colorado • Fort Myers, Florida • Tallahassee, Florida + 9 more
Source: ClinicalTrials.gov public record
Updated Jun 7, 2026 · Synced Jul 22, 2026, 2:27 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants

NCT06930417
View directory record Official record
Conditions
Williams Beuren Syndrome, Williams Syndrome, Williams Beuren Region Duplication, Dup7
Interventions
Not listed
Lead sponsor
University of Pennsylvania
Other
Eligibility
Not listed
Enrollment
2,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2045
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jun 7, 2026 · Synced Jul 22, 2026, 2:27 PM EDT
Recruiting Phase 1Phase 2 Interventional

HALOS: A Safety, Tolerability, Pharmacokinetics and Pharmacodynamics Study of Multiple Ascending Doses of ION582 in Participants With Angelman Syndrome

NCT05127226
View directory record Official record
Conditions
Angelman Syndrome
Interventions
ION582
Drug
Lead sponsor
Ionis Pharmaceuticals, Inc.
Industry
Eligibility
0 Years to 50 Years
Enrollment
70 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2029
U.S. locations
6
States / cities
San Diego, California • Aurora, Colorado • Chicago, Illinois + 3 more
Source: ClinicalTrials.gov public record
Updated Nov 13, 2025 · Synced Jul 22, 2026, 2:27 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Genetics of Congenital Heart Disease

NCT01192048
View directory record Official record
Conditions
Congenital Heart Disease
Interventions
Blood Sample Collection
Other
Lead sponsor
Nationwide Children's Hospital
Other
Eligibility
Not listed
Enrollment
5,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2009 – 2030
U.S. locations
1
States / cities
Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Apr 6, 2026 · Synced Jul 22, 2026, 2:27 PM 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 Jul 22, 2026, 2:27 PM EDT