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ClinicalTrials.gov public records Last synced Oct 22, 2026, 4:58 PM EDT

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Showing 529–552 of 559 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Chromosomal Abnormalities Clear all
Completed No phase listed Observational

Adaptation Among Adolescents and Adults With Klinefelter Syndrome

NCT00896272
View directory record Official record
Conditions
Klinefelter Syndrome
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
14 Years to 80 Years · Male only
Enrollment
302 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2015
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 17, 2019 · Synced Oct 22, 2026, 4:58 PM 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 22, 2026, 4:58 PM 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 22, 2026, 4:58 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 22, 2026, 4:58 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 17, 2011 · Synced Oct 22, 2026, 4:58 PM EDT
Completed Not applicable Interventional Results available

Minocycline in the Treatment of Angelman Syndrome

NCT01531582
View directory record Official record
Conditions
Angelman Syndrome
Interventions
minocycline
Drug
Lead sponsor
University of South Florida
Other
Eligibility
4 Years to 12 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2015
U.S. locations
1
States / cities
Tampa, Florida
Source: ClinicalTrials.gov public record
Updated Apr 18, 2023 · Synced Oct 22, 2026, 4:58 PM EDT
Active, not recruiting Phase 3 Interventional

Long-term Follow-up of Patients With Spinal Muscular Atrophy Treated With OAV101 in Clinical Trials

NCT05335876
View directory record Official record
Conditions
Spinal Muscular Atrophy (SMA)
Interventions
onasemnogene abeparvovec
Biological
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
0 Years to 100 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2031
U.S. locations
1
States / cities
Norfolk, Virginia
Source: ClinicalTrials.gov public record
Updated Jul 9, 2026 · Synced Oct 22, 2026, 4:58 PM EDT
Completed Phase 4 Interventional

TESTO: Testosterone Effects on Short-Term Outcomes in Infants With XXY

NCT03325647
View directory record Official record
Conditions
Klinefelter Syndrome
Interventions
Testosterone Cypionate 200 Milligram/Milliliter Injectable Solution, Placebo injectable saline
Drug
Lead sponsor
University of Colorado, Denver
Other
Eligibility
31 Days to 90 Days · Male only
Enrollment
72 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2021
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated May 6, 2022 · Synced Oct 22, 2026, 4:58 PM EDT
Recruiting Not applicable Interventional

Treatment of Obstructive Sleep Apnea With Personalized Surgery in Children With Down Syndrome (TOPS-DS)

NCT05508971
View directory record Official record
Conditions
Obstructive Sleep Apnea, Down Syndrome
Interventions
DISE-Directed Surgery, Adenotonsillectomy
Procedure
Lead sponsor
Oregon Health and Science University
Other
Eligibility
2 Years to 17 Years
Enrollment
304 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2028
U.S. locations
7
States / cities
Aurora, Colorado • Ann Arbor, Michigan • Cincinnati, Ohio + 4 more
Source: ClinicalTrials.gov public record
Updated Sep 11, 2026 · Synced Oct 22, 2026, 4:58 PM EDT
Completed Phase 1Phase 2 Interventional Results available

Clofarabine and Cytarabine in Treating Older Patients With AML or High-Risk MDS

NCT00839982
View directory record Official record
Conditions
Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities, Adult Acute Myeloid Leukemia With Del(5q), Adult Acute Myeloid Leukemia With Inv(16)(p13;q22), Adult Acute Myeloid Leukemia With t(16;16)(p13;q22), Adult Acute Myeloid Leukemia With t(8;21)(q22;q22), Myelodysplastic Syndrome With Isolated Del(5q), Previously Treated Myelodysplastic Syndromes, Recurrent Adult Acute Myeloid Leukemia
Interventions
clofarabine, cytarabine
Drug
Lead sponsor
Fred Hutchinson Cancer Center
Other
Eligibility
60 Years and older
Enrollment
35 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2012
U.S. locations
1
States / cities
Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Jul 11, 2017 · Synced Oct 22, 2026, 4:58 PM 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 22, 2026, 4:58 PM EDT
Completed Phase 2 Interventional Results available

An Extension Study to Determine the Efficacy and Safety of STI571 in Participants With Chronic Myeloid Leukemia Who Are Refractory to or Intolerant of Interferon-Alpha

NCT00171223
View directory record Official record
Conditions
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Interventions
STI571
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years and older
Enrollment
532 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1999 – 2013
U.S. locations
11
States / cities
Los Angeles, California • Tampa, Florida • Chicago, Illinois + 8 more
Source: ClinicalTrials.gov public record
Updated Jul 22, 2021 · Synced Oct 22, 2026, 4:58 PM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Tracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS/EEG-Preschool Age

NCT05957549
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
Speech discrimination
Other
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
24 Months to 4 Years
Enrollment
90 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2027
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Jul 10, 2025 · Synced Oct 22, 2026, 4:58 PM EDT
Completed Phase 2 Interventional Results available

A 4-Week Safety Study of Oral ELND005 in Young Adults With Down Syndrome Without Dementia

NCT01791725
View directory record Official record
Conditions
Down Syndrome
Interventions
ELND005, Placebo
Drug
Lead sponsor
OPKO Health, Inc.
Industry
Eligibility
18 Years to 45 Years
Enrollment
23 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2014
U.S. locations
3
States / cities
La Jolla, California • Orange, California • Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Nov 4, 2019 · Synced Oct 22, 2026, 4:58 PM EDT
Completed No phase listed Observational

Genetic Modifiers for 22q11.2 Syndrome

NCT00916955
View directory record Official record
Conditions
22q11.2 Deletion Syndrome
Interventions
Observation
Other
Lead sponsor
State University of New York - Upstate Medical University
Other
Eligibility
Not listed
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2015
U.S. locations
1
States / cities
Syracuse, New York
Source: ClinicalTrials.gov public record
Updated Oct 20, 2021 · Synced Oct 22, 2026, 4:58 PM 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 22, 2026, 4:58 PM EDT
Active, not recruiting Phase 2 Interventional

A Safety and Efficacy Study of GTX-102 in Subjects With Deletion- or Nondeletion-type Angelman Syndrome (AS)

NCT07157254
View directory record Official record
Conditions
Angelman Syndrome
Interventions
No intervention, GTX-102
Other · Drug
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
1 Year to 64 Years
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2030
U.S. locations
8
States / cities
Los Angeles, California • Chicago, Illinois • Baltimore, Maryland + 5 more
Source: ClinicalTrials.gov public record
Updated Sep 9, 2026 · Synced Oct 22, 2026, 4:58 PM EDT
Completed Early Phase 1 Interventional Results available

Neurophysiological and Acute Pharmacological Studies in FXS Patients

NCT02998151
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
Acamprosate, Lovastatin, Minocycline, Placebo, Baclofen
Drug
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
15 Years to 55 Years
Enrollment
29 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2020
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Nov 26, 2021 · Synced Oct 22, 2026, 4:58 PM EDT
Completed Not applicable Interventional

The Effects of Virtual Zumba® in Individuals With Developmental Disabilities

NCT05198232
View directory record Official record
Conditions
Developmental Disability, Autism Spectrum Disorder, Down Syndrome, Cerebral Palsy
Interventions
Zumba High Tempo, Zumba Low Tempo
Behavioral
Lead sponsor
Auburn University
Other
Eligibility
18 Years to 75 Years
Enrollment
57 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2022
U.S. locations
1
States / cities
Auburn, Alabama
Source: ClinicalTrials.gov public record
Updated May 5, 2022 · Synced Oct 22, 2026, 4:58 PM EDT
Completed Phase 2 Interventional Results available

Placebo-Controlled, Single-Dose Challenge Study of Gaboxadol in Adult Males With Fragile X Syndrome (FXS)

NCT06334419
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
Gaboxadol, Placebo
Drug
Lead sponsor
Craig Erickson
Other
Eligibility
18 Years to 40 Years · Male only
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2025
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Sep 30, 2026 · Synced Oct 22, 2026, 4:58 PM EDT
Completed No phase listed Observational

Mitochondrial Dysfunction in Phelan-McDermid Syndrome

NCT02000167
View directory record Official record
Conditions
Phelan-McDermid Syndrome
Interventions
Not listed
Lead sponsor
University of Arkansas
Other
Eligibility
1 Year to 21 Years
Enrollment
51 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2015
U.S. locations
1
States / cities
Little Rock, Arkansas
Source: ClinicalTrials.gov public record
Updated Aug 5, 2021 · Synced Oct 22, 2026, 4:58 PM 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 22, 2026, 4:58 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

10-Week Physical Activity Program for Mothers of Children With Developmental Disabilities

NCT07182071
View directory record Official record
Conditions
Caregiver Burden
Interventions
Physical Activity Program, Waitlist for Physical Activity Program
Behavioral
Lead sponsor
University of Wisconsin, Madison
Other
Eligibility
25 Years to 50 Years · Female only
Enrollment
19 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2026
U.S. locations
1
States / cities
Madison, Wisconsin
Source: ClinicalTrials.gov public record
Updated Jun 5, 2026 · Synced Oct 22, 2026, 4:58 PM EDT
Completed No phase listed Observational

Expanded Noninvasive Genomic Medical Assessment: The Enigma Study

NCT02787486
View directory record Official record
Conditions
Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome, Turner Syndrome, DiGeorge Syndrome, Chromosome Deletion, Aneuploidy
Interventions
Blood sampling for Laboratory Developed Test (LDT) analysis
Other
Lead sponsor
Progenity, Inc.
Industry
Eligibility
18 Years to 54 Years · Female only
Enrollment
760 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2018
U.S. locations
8
States / cities
Scottsdale, Arizona • Eunice, Louisiana • Brooklyn, New York + 5 more
Source: ClinicalTrials.gov public record
Updated Aug 21, 2019 · Synced Oct 22, 2026, 4:58 PM EDT