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ClinicalTrials.gov public records Last synced Oct 21, 2026, 7:36 AM EDT

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Showing 169–192 of 559 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Chromosomal Abnormalities Clear all
Completed Phase 2 Interventional Results available

RA-2 13-cis Retinoic Acid (Isotretinoin)

NCT02061384
View directory record Official record
Conditions
Male Infertility, Klinefelter's Syndrome, Y-chromosome Microdeletions
Interventions
13-cis retinoic acid, Calcitriol
Drug
Lead sponsor
University of Washington
Other
Eligibility
21 Years to 60 Years · Male only
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2018
U.S. locations
1
States / cities
Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Aug 2, 2021 · Synced Oct 21, 2026, 7:36 AM 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 5, 2018 · Synced Oct 21, 2026, 7:36 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Use of a Novel Computerized Decision Aid for Prenatal Aneuploidy Screening

NCT02991729
View directory record Official record
Conditions
Aneuploidy, Pregnancy Complications
Interventions
iPad-based decision aid, Genetic counseling appointment
Other
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
18 Years to 50 Years · Female only
Enrollment
197 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2018
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Oct 22, 2020 · Synced Oct 21, 2026, 7:36 AM EDT
Completed No phase listed Observational

Health, Fitness, and Quality of Life in Adolescent Girls With Turner Syndrome

NCT03181230
View directory record Official record
Conditions
Turner Syndrome, Turner Syndrome Mosaicism, 45, X/46, XX or XY, Turner Syndrome Mosaicism 46,X,I(X)(Q10)/45,X, Turner Syndrome Karyotype 46,X With Abnormal Sex Chromosome , Except I(Xq)
Interventions
No intervention
Other
Lead sponsor
University of Colorado, Denver
Other
Eligibility
12 Years to 21 Years · Female only
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2018
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated May 3, 2021 · Synced Oct 21, 2026, 7:36 AM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Speech-in-noise Perception in Autism and Fragile X

NCT06088589
View directory record Official record
Conditions
Autism Spectrum Disorder, Fragile X Syndrome
Interventions
Mismatch negativity
Behavioral
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
15 Years to 35 Years
Enrollment
60 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2026
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Mar 19, 2026 · Synced Oct 21, 2026, 7:36 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Effect of Video Education on Patients' Knowledge and Attitudes of Privacy in Prenatal Genetics

NCT04420858
View directory record Official record
Conditions
Aneuploidy, Genetic Disease, Pregnancy Related
Interventions
Enhanced (experimental) education, Standard (control) education.
Behavioral
Lead sponsor
Women and Infants Hospital of Rhode Island
Other
Eligibility
18 Years and older · Female only
Enrollment
162 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020
U.S. locations
1
States / cities
Providence, Rhode Island
Source: ClinicalTrials.gov public record
Updated Nov 4, 2020 · Synced Oct 21, 2026, 7:36 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 9, 2026 · Synced Oct 21, 2026, 7:36 AM EDT
Active, not recruiting Phase 2 Interventional

Medications for Obstructive Sleep Apnea to Improve Cognition in Children With Down Syndrome

NCT05933603
View directory record Official record
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
36 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2026
U.S. locations
1
States / cities
Tucson, Arizona
Source: ClinicalTrials.gov public record
Updated Apr 7, 2026 · Synced Oct 21, 2026, 7:36 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Sex Differences in Early Brain Development; Brain Development in Turner Syndrome

NCT00877942
View directory record Official record
Conditions
Turner Syndrome
Interventions
Not listed
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
2 Weeks to 2 Years
Enrollment
295 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2006 – 2014
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated May 2, 2014 · Synced Oct 21, 2026, 7:36 AM EDT
Completed No phase listed Observational

Biomarker Testing and DNA Collection in Subjects Participating in Protocol 22001

NCT00823368
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
STX209
Drug
Lead sponsor
Seaside Therapeutics, Inc.
Industry
Eligibility
6 Years to 40 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2009
U.S. locations
11
States / cities
Phoenix, Arizona • Los Angeles, California • Sacramento, California + 8 more
Source: ClinicalTrials.gov public record
Updated Jul 31, 2013 · Synced Oct 21, 2026, 7:36 AM EDT
Completed Phase 2 Interventional Results available

Androgen Effect on Klinefelter Syndrome Motor Outcome

NCT00348946
View directory record Official record
Conditions
Klinefelter Syndrome
Interventions
androgen oxandrolone, placebo
Drug · Other
Lead sponsor
Thomas Jefferson University
Other
Eligibility
4 Years to 12 Years · Male only
Enrollment
93 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2017
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jul 8, 2021 · Synced Oct 21, 2026, 7:36 AM EDT
Recruiting Phase 2 Interventional

Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD)

NCT07284641
View directory record Official record
Conditions
Common Variable Immunodeficiency (CVID), Primary Immune Regulatory Disorder, Immune Dysregulation, DiGeorge Syndrome, STAT 1 Gain of Function, STAT 3 Gain of Function, Hypomorphic RAG1 Deficiency, CD40 Ligand Deficiency, Mendelian Susceptibility to Mycobacterial Disease, GATA2 Associated Immunodeficiency, CD40 Deficiency, Hypomorphic RAG2 Deficiency, Immune Dysregulation Polyendocrinopathy Enteropathy X-Linked Syndrome, Omenn Syndrome, Chronic Granulomatous Disease
Interventions
Hematopoietic stem cell transplant (HSCT)
Biological
Lead sponsor
Paul Szabolcs
Other
Eligibility
5 Years to 40 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2031
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated May 15, 2026 · Synced Oct 21, 2026, 7:36 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW

NCT02670694
View directory record Official record
Conditions
Rett Syndrome, Prader-Willi Syndrome, Angelman Syndrome, Sleep Problems
Interventions
Not listed
Lead sponsor
Baylor College of Medicine
Other
Eligibility
1 Year to 18 Years
Enrollment
804 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2013
U.S. locations
9
States / cities
Birmingham, Alabama • Irvine, California • San Diego, California + 6 more
Source: ClinicalTrials.gov public record
Updated Feb 2, 2016 · Synced Oct 21, 2026, 7:36 AM EDT
Not listed Phase 2 Interventional

Combination Chemotherapy Followed by Donor Bone Marrow Transplant or Peripheral Stem Cell Transplant in Treating Patients With Hematologic Cancer or Genetic Disorders

NCT00008307
View directory record Official record
Conditions
Leukemia, Lymphoma, Multiple Myeloma and Plasma Cell Neoplasm, Myelodysplastic Syndromes
Interventions
anti-thymocyte globulin, cyclosporine, fludarabine phosphate, melphalan, methylprednisolone, mycophenolate mofetil, allogeneic bone marrow transplantation, peripheral blood stem cell transplantation, syngeneic bone marrow transplantation
Biological · Drug · Procedure
Lead sponsor
Herbert Irving Comprehensive Cancer Center
Other
Eligibility
1 Year to 80 Years
Enrollment
52 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1998
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jan 6, 2014 · Synced Oct 21, 2026, 7:36 AM EDT
Recruiting Phase 2 Interventional

Metric-Optimized Spectacle Prescriptions for Children With Down Syndrome

NCT07490444
View directory record Official record
Conditions
Refractive Error Correction, Visual Acuity
Interventions
Metric-optimized spectacles, Routine Clinical Spectacles
Device
Lead sponsor
Ohio State University
Other
Eligibility
5 Years to 12 Years
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
1
States / cities
Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Jul 20, 2026 · Synced Oct 21, 2026, 7:36 AM EDT
Recruiting Phase 3 Interventional

Compassionate Use Study of Epi-ON Corneal Collagen Crosslinking Performed Using UVA Exposure on Eyes With Ectatic Corneal Diseases for Subjects With Down Syndrome

NCT07135167
View directory record Official record
Conditions
Down Syndrome (DS), Keratoconus, Pellucid Marginal Degeneration, Forme Fruste Keratoconus (FFK)
Interventions
Epi-ON corneal cross-linking (CXL)
Combination Product
Lead sponsor
Woolfson Eye Institute
Other
Eligibility
8 Years and older
Enrollment
225 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
12
States / cities
Atlanta, Georgia • Canton, Georgia • Cumming, Georgia + 8 more
Source: ClinicalTrials.gov public record
Updated Feb 2, 2026 · Synced Oct 21, 2026, 7:36 AM EDT
Terminated Phase 2 Interventional Results available

Metyrosine (Demser®) for the Treatment of Psychotic Disorders in Patients With Velocardiofacial Syndrome

NCT01127503
View directory record Official record
Conditions
Velo-cardio-facial Syndrome, Psychosis
Interventions
Metyrosine, Placebo
Drug
Lead sponsor
Bausch Health Americas, Inc.
Industry
Eligibility
16 Years to 65 Years
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2011
U.S. locations
1
States / cities
Syracuse, New York
Source: ClinicalTrials.gov public record
Updated Nov 22, 2019 · Synced Oct 21, 2026, 7:36 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 10, 2023 · Synced Oct 21, 2026, 7:36 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Oxygen Uptake Kinetics During Submaximal Exercise in Adults With Down Syndrome

NCT05995223
View directory record Official record
Conditions
Down Syndrome
Interventions
Submaximal exercise protocol
Other
Lead sponsor
University of Nevada, Las Vegas
Other
Eligibility
18 Years to 35 Years
Enrollment
28 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2024
U.S. locations
1
States / cities
Las Vegas, Nevada
Source: ClinicalTrials.gov public record
Updated Jul 1, 2024 · Synced Oct 21, 2026, 7:36 AM EDT
Recruiting Phase 2 Interventional

Modulation of the Immune System in Down Syndrome for Improved Outcomes and Neurodevelopment - 1

NCT07598643
View directory record Official record
Conditions
Down Syndrome
Interventions
Tofacitinib Oral Solution, Placebo
Drug
Lead sponsor
University of Colorado, Denver
Other
Eligibility
6 Years to 22 Years
Enrollment
92 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2030
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Sep 3, 2026 · Synced Oct 21, 2026, 7:36 AM EDT
Terminated No phase listed Observational

Clinical Performance of the MaterniT21 PLUS LDT in Multiple Gestation Pregnancies

NCT02226315
View directory record Official record
Conditions
Down Syndrome, Edwards Syndrome, Patau Syndrome, Turner Syndrome
Interventions
Not listed
Lead sponsor
Sequenom, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2015
U.S. locations
1
States / cities
Denver, Colorado
Source: ClinicalTrials.gov public record
Updated Sep 17, 2015 · Synced Oct 21, 2026, 7:36 AM EDT
Terminated No phase listed Observational Accepts healthy volunteers

Rocky Mountain Alzheimer's Disease Center Longitudinal Biomarker and Clinical Phenotyping Study

NCT02612376
View directory record Official record
Conditions
Alzheimer Disease, Down Syndrome, Mild Cognitive Impairment
Interventions
Not listed
Lead sponsor
University of Colorado, Denver
Other
Eligibility
18 Years and older
Enrollment
800 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2025
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Jun 3, 2025 · Synced Oct 21, 2026, 7:36 AM EDT
Completed Not applicable Interventional

Prader-Willi Syndrome Macronutrient Study

NCT02011360
View directory record Official record
Conditions
Prader Willi Syndrome, Syndromic Obesity, Childhood Obesity
Interventions
Low Carbohydrate diet, Low Fat diet
Other
Lead sponsor
Duke University
Other
Eligibility
5 Years to 17 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2016
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Dec 14, 2016 · Synced Oct 21, 2026, 7:36 AM EDT
Completed Phase 2 Interventional

Hormone Replacement Therapy to Treat Turner Syndrome

NCT00013546
View directory record Official record
Conditions
Osteoporosis, Turner's Syndrome
Interventions
TMTDS
Drug
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
Female only
Enrollment
92 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2001 – 2002
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 4, 2008 · Synced Oct 21, 2026, 7:36 AM EDT