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ClinicalTrials.gov public records Last synced Oct 21, 2026, 9:40 AM EDT

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Showing 193–216 of 559 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Chromosomal Abnormalities Clear all
Recruiting Phase 1 Interventional

A Study of Sovilnesib in Subjects With Ovarian Cancer

NCT06084416
View directory record Official record
Conditions
High Grade Serous Adenocarcinoma of Ovary, Fallopian Tube Cancer, Primary Peritoneal Carcinoma, Chromosomal Instability
Interventions
Sovilnesib
Drug
Lead sponsor
Volastra Therapeutics, Inc.
Industry
Eligibility
18 Years and older
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2027
U.S. locations
11
States / cities
Birmingham, Alabama • Little Rock, Arkansas • Newport Beach, California + 8 more
Source: ClinicalTrials.gov public record
Updated Oct 13, 2026 · Synced Oct 21, 2026, 9:40 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 2, 2017 · Synced Oct 21, 2026, 9:40 AM EDT
Completed No phase listed Observational

Development of a Prenatal Test for Fetal Aneuploidy Detection

NCT01451671
View directory record Official record
Conditions
Fetal Complications
Interventions
Not listed
Lead sponsor
Cindy Cisneros
Industry
Eligibility
18 Years and older · Female only
Enrollment
1,500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2019
U.S. locations
3
States / cities
San Diego, California • Louisville, Kentucky • Milwaukee, Wisconsin
Source: ClinicalTrials.gov public record
Updated Apr 30, 2020 · Synced Oct 21, 2026, 9:40 AM EDT
Recruiting Phase 2 Interventional

A Study to Compare Blinatumomab Alone to Blinatumomab With Nivolumab in Patients Diagnosed With First Relapse B-Cell Acute Lymphoblastic Leukemia (B-ALL)

NCT04546399
View directory record Official record
Conditions
Down Syndrome, Recurrent B Acute Lymphoblastic Leukemia
Interventions
3-Dimensional Conformal Radiation Therapy, Asparaginase Erwinia chrysanthemi, Biospecimen Collection, Blinatumomab, Bone Marrow Aspiration, Bone Marrow Biopsy, Calaspargase Pegol, Cytarabine, Dexamethasone, Hydrocortisone Sodium Succinate, Lumbar Puncture, Mercaptopurine, Methotrexate, Nivolumab, Pegaspargase, Vincristine Sulfate
Radiation · Drug · Procedure + 1 more
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
1 Year to 30 Years
Enrollment
461 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2028
U.S. locations
211
States / cities
Birmingham, Alabama • Mobile, Alabama • Anchorage, Alaska + 151 more
Source: ClinicalTrials.gov public record
Updated Sep 1, 2026 · Synced Oct 21, 2026, 9:40 AM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Loss of Y Chromosome in Aortic Stenosis

NCT06595407
View directory record Official record
Conditions
Aortic Stenosis
Interventions
Blood analysis for loss-of-Y chromosome
Diagnostic Test
Lead sponsor
University of Virginia
Other
Eligibility
40 Years and older · Male only
Enrollment
200 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2026
U.S. locations
1
States / cities
Charlottesville, Virginia
Source: ClinicalTrials.gov public record
Updated Sep 19, 2024 · Synced Oct 21, 2026, 9:40 AM EDT
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 21, 2026, 9:40 AM 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 21, 2026, 9:40 AM EDT
Not listed Not applicable Interventional

Transcranial Photobiomodulation With Near-Infrared Light for Language in Individuals With Down Syndrome

NCT04668001
View directory record Official record
Conditions
Down Syndrome
Interventions
Near-Infrared Transcranial Photobiomodulation, Sham Transcranial Photobiomodulation
Device
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
16 Years to 35 Years
Enrollment
19 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2024
U.S. locations
1
States / cities
Charlestown, Massachusetts
Source: ClinicalTrials.gov public record
Updated May 31, 2024 · Synced Oct 21, 2026, 9:40 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Parents as the Primary Sexuality Educators for Their Young Adults With Down Syndrome

NCT03135236
View directory record Official record
Conditions
Down Syndrome, Intellectual Disability, Sexuality, Parent-Child Relations
Interventions
Parent training
Behavioral
Lead sponsor
Wake Forest University Health Sciences
Other
Eligibility
Not listed
Enrollment
13 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2018
U.S. locations
1
States / cities
Park Ridge, Illinois
Source: ClinicalTrials.gov public record
Updated Oct 4, 2024 · Synced Oct 21, 2026, 9:40 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 14, 2026 · Synced Oct 21, 2026, 9:40 AM EDT
Completed No phase listed Observational

A Study Collecting Blood Samples From Pregnant Women to Aid in the Development of a Noninvasive Prenatal Test

NCT03620110
View directory record Official record
Conditions
Pregnancy
Interventions
Not listed
Lead sponsor
Illumina, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
2,209 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2019
U.S. locations
8
States / cities
Phoenix, Arizona • Hagerstown, Maryland • Greensboro, North Carolina + 5 more
Source: ClinicalTrials.gov public record
Updated Jan 14, 2020 · Synced Oct 21, 2026, 9:40 AM EDT
Terminated No phase listed Observational

Fertility Assessment in Patients With Klinefelter Syndrome

NCT02461303
View directory record Official record
Conditions
Klinefelter Syndrome
Interventions
Counseling
Other
Lead sponsor
University of Pittsburgh
Other
Eligibility
12 Years to 25 Years · Male only
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2017
U.S. locations
2
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jul 24, 2018 · Synced Oct 21, 2026, 9:40 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Turner Syndrome: Genotype and Phenotype

NCT00006334
View directory record Official record
Conditions
Turner's Syndrome
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
10 Years and older
Enrollment
1,017 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2000 – 2014
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 6, 2017 · Synced Oct 21, 2026, 9:40 AM EDT
Recruiting Phase 2 Interventional Accepts healthy volunteers

Cholinergic Integrity in Down Syndrome in Association With Aging, Alzheimer's Disease Pathology, and Cognition

NCT05231798
View directory record Official record
Conditions
Down Syndrome, Down Syndrome, Partial Trisomy 21, Alzheimer Disease
Interventions
[18F]-FEOBV Radiotracer
Drug
Lead sponsor
Vanderbilt University Medical Center
Other
Eligibility
18 Years to 55 Years
Enrollment
30 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2027
U.S. locations
1
States / cities
Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Jun 22, 2026 · Synced Oct 21, 2026, 9:40 AM EDT
Completed Phase 2 Interventional

An Efficacy, Safety, and Pharmacokinetics Study of Beloranib in Obese Subjects With Prader-Willi Syndrome

NCT01818921
View directory record Official record
Conditions
Obesity, Over-weight, Prader-Willi Syndrome
Interventions
ZGN-440 sterile diluent, 1.2 mg ZGN-440 for injectable suspension, 1.8 mg ZGN-440 for injectable suspension
Drug
Lead sponsor
Zafgen, Inc.
Industry
Eligibility
16 Years to 65 Years
Enrollment
17 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013
U.S. locations
1
States / cities
Gainesville, Florida
Source: ClinicalTrials.gov public record
Updated Jul 18, 2016 · Synced Oct 21, 2026, 9:40 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 11, 2020 · Synced Oct 21, 2026, 9:40 AM EDT
Completed Not applicable Interventional Results available

Promoting Health Through Parent Empowerment and the Activation of Routines (PrO-PEAR)

NCT05020366
View directory record Official record
Conditions
Down Syndrome
Interventions
Promoting Health through Parent Empowerment and the Activation of Routines, Enhanced Usual Care
Behavioral
Lead sponsor
University of Pittsburgh
Other
Eligibility
12 Months and older
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jul 15, 2024 · Synced Oct 21, 2026, 9:40 AM EDT
Terminated Phase 1 Interventional

Hero: A Study to Evaluate the Safety, Tolerability, and Pharmacokinetics (PK) and Pharmacodynamics (PD) of ION269 in Participants With Down Syndrome (DS) at Risk for Alzheimer's Disease (AD)

NCT06673069
View directory record Official record
Conditions
Alzheimer Disease, Down Syndrome
Interventions
ION269
Drug
Lead sponsor
Ionis Pharmaceuticals, Inc.
Industry
Eligibility
35 Years to 55 Years
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2025
U.S. locations
5
States / cities
Indianapolis, Indiana • Kansas City, Kansas • Lexington, Kentucky + 2 more
Source: ClinicalTrials.gov public record
Updated Feb 20, 2026 · Synced Oct 21, 2026, 9:40 AM EDT
Completed Phase 3 Interventional

Clinical Study of Cannabidiol in Children, Adolescents, and Young Adults With Fragile X Syndrome

NCT04977986
View directory record Official record
Conditions
Fragile X Syndrome, Fragile X Syndrome (FXS)
Interventions
ZYN002, Placebo
Drug
Lead sponsor
Harmony Biosciences Management, Inc.
Industry
Eligibility
3 Years to 29 Years
Enrollment
257 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2025
U.S. locations
18
States / cities
Phoenix, Arizona • Culver City, California • Irvine, California + 15 more
Source: ClinicalTrials.gov public record
Updated Sep 1, 2026 · Synced Oct 21, 2026, 9:40 AM EDT
Completed Not applicable Interventional Results available

Gait in Children With Down Syndrome While Wearing Orthoses

NCT01598350
View directory record Official record
Conditions
Down Syndrome
Interventions
Supramalleolar Orthoses (Cascade)
Device
Lead sponsor
University of Puget Sound
Other
Eligibility
2 Years to 10 Years
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2011
U.S. locations
1
States / cities
Tacoma, Washington
Source: ClinicalTrials.gov public record
Updated Dec 30, 2013 · Synced Oct 21, 2026, 9:40 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 12, 2018 · Synced Oct 21, 2026, 9:40 AM EDT
Completed No phase listed Observational

Noninvasive Screening for Affected Pregnancies: Assay Development & Optimization in Affected Pregnancies

NCT01052688
View directory record Official record
Conditions
Down Syndrome, Aneuploidy
Interventions
Maternal blood draw of 30 to 50ml
Other
Lead sponsor
Sequenom, Inc.
Industry
Eligibility
Female only
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2021
U.S. locations
10
States / cities
Phoenix, Arizona • San Diego, California • Washington D.C., District of Columbia + 3 more
Source: ClinicalTrials.gov public record
Updated Sep 20, 2021 · Synced Oct 21, 2026, 9:40 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, 9:40 AM EDT
Completed Phase 1Phase 2 Interventional Results available

Low-Dose Ketamine in Children With ADNP Syndrome

NCT04388774
View directory record Official record
Conditions
ADNP Syndrome
Interventions
Ketamine
Drug
Lead sponsor
Alexander Kolevzon
Other
Eligibility
5 Years to 12 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2021
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jul 7, 2023 · Synced Oct 21, 2026, 9:40 AM EDT