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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Cytogenetic Abnormality Clear all
Recruiting No phase listed Observational

The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy

NCT03396562
View directory record Official record
Conditions
Klinefelter Syndrome, Trisomy X, XYY Syndrome, XXXY and XXXXY Syndrome, Xxyy Syndrome, Xyyy Syndrome, Xxxx Syndrome, Xxxxx Syndrome, Xxxyy Syndrome, Xxyyy Syndrome, Xyyyy Syndrome, Male With Sex Chromosome Mosaicism
Interventions
Assessments of Development and Growth
Other
Lead sponsor
University of Colorado, Denver
Other
Eligibility
6 Weeks to 13 Months
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2028
U.S. locations
2
States / cities
Aurora, Colorado • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated May 8, 2024 · Synced Sep 17, 2026, 5:15 AM EDT
Completed No phase listed Observational

Gait Parameters of Persons With Down Syndrome With and Without Orthotics Using GaitRite

NCT01390558
View directory record Official record
Conditions
Down Syndrome
Interventions
custom orthotics
Procedure
Lead sponsor
Oregon Health and Science University
Other
Eligibility
2 Years to 80 Years
Enrollment
23 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2018
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Feb 14, 2019 · Synced Sep 17, 2026, 5:15 AM 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 Sep 17, 2026, 5:15 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 17, 2026, 5:15 AM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Gamma Frequency Stimulation in Individuals With Down Syndrome

NCT05196984
View directory record Official record
Conditions
Down Syndrome
Interventions
GENUS device (Active Settings), GENUS device (Sham Settings)
Device
Lead sponsor
Massachusetts Institute of Technology
Other
Eligibility
25 Years to 65 Years
Enrollment
60 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2026
U.S. locations
1
States / cities
Cambridge, Massachusetts
Source: ClinicalTrials.gov public record
Updated Mar 30, 2026 · Synced Sep 17, 2026, 5:15 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 Apr 19, 2025 · Synced Sep 17, 2026, 5:15 AM EDT
Completed Phase 2 Interventional Results available

Study of SPG601 in Adult Men With Fragile X Syndrome

NCT06413537
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
SPG601, Placebo
Drug
Lead sponsor
Spinogenix
Industry
Eligibility
18 Years to 45 Years · Male only
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated May 25, 2026 · Synced Sep 17, 2026, 5:15 AM EDT
Not listed Not applicable Interventional Accepts healthy volunteers

Aromatase Activity and Ovarian Growth Factors in African-American Versus Caucasian Women

NCT00334971
View directory record Official record
Conditions
Healthy, Fragile X Syndrome
Interventions
Follicle Aspiration
Procedure
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
18 Years to 45 Years · Female only
Enrollment
116 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2004 – 2018
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Nov 5, 2013 · Synced Sep 17, 2026, 5:15 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 2, 2021 · Synced Sep 17, 2026, 5:15 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Screening of Low Responders for Aneuploidy to Improve Reproductive Efficiency

NCT01977144
View directory record Official record
Conditions
Infertility
Interventions
Comprehensive Chromosomal Screening
Other
Lead sponsor
Reproductive Medicine Associates of New Jersey
Other
Eligibility
18 Years to 43 Years · Female only
Enrollment
206 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2020
U.S. locations
1
States / cities
Basking Ridge, New Jersey
Source: ClinicalTrials.gov public record
Updated Jan 13, 2022 · Synced Sep 17, 2026, 5:15 AM EDT
Terminated No phase listed Observational

Evaluation of Ocular Lens Proteins in Cataract From Individuals With Down Syndrome

NCT03778528
View directory record Official record
Conditions
Cataract, Down Syndrome
Interventions
cataract surgery
Procedure
Lead sponsor
University of Colorado, Denver
Other
Eligibility
1 Month to 18 Years
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Jul 6, 2020 · Synced Sep 17, 2026, 5:15 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 3, 2024 · Synced Sep 17, 2026, 5:15 AM EDT
Completed Phase 2 Interventional

Oxandrolone Compared With a Placebo on Growth Rate in Girls With Growth Hormone-Treated Turner's Syndrome

NCT00004275
View directory record Official record
Conditions
Turner's Syndrome
Interventions
growth hormone, oxandrolone
Drug
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
10 Years to 14 Years · Female only
Enrollment
80 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Sep 9, 2008 · Synced Sep 17, 2026, 5:15 AM EDT
Withdrawn Phase 2 Interventional

Study of Tesomet With Open-label Extension in Subjects With Prader-Willi Syndrome

NCT05198362
View directory record Official record
Conditions
Prader-Willi Syndrome
Interventions
Placebo, Tesomet
Other · Drug
Lead sponsor
Saniona
Industry
Eligibility
13 Years to 65 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2022
U.S. locations
1
States / cities
Lansing, Michigan
Source: ClinicalTrials.gov public record
Updated Dec 12, 2022 · Synced Sep 17, 2026, 5:15 AM EDT
Terminated Phase 2 Interventional Results available

Pegasys in Patients With Chronic Myeloid Leukemia (CML)

NCT01392170
View directory record Official record
Conditions
Leukemia
Interventions
PEG-IFNá-2a
Drug
Lead sponsor
M.D. Anderson Cancer Center
Other
Eligibility
16 Years and older
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2014
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated May 3, 2015 · Synced Sep 17, 2026, 5:15 AM EDT
Completed No phase listed Observational

Studying Chromosomes in Samples From Younger Patients With Neuroblastoma

NCT01589341
View directory record Official record
Conditions
Neuroblastoma
Interventions
laboratory biomarker analysis
Other
Lead sponsor
Children's Oncology Group
Network
Eligibility
Up to 18 Years
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2012
U.S. locations
1
States / cities
Monrovia, California
Source: ClinicalTrials.gov public record
Updated May 17, 2016 · Synced Sep 17, 2026, 5:15 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 19, 2026 · Synced Sep 17, 2026, 5:15 AM EDT
Not yet recruiting Phase 2 Interventional

Pre-pubertal Low Dose Transdermal Estradiol in Turner Syndrome

NCT07784582
View directory record Official record
Conditions
Turner Syndrome, Primary Ovarian Insufficiency
Interventions
Estradiol transdermal patch 0.025mg/24 hours- 1/8th fractionated patch
Drug
Lead sponsor
Children's National Research Institute
Other
Eligibility
8 Years to 12 Years · Female only
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2027
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Source: ClinicalTrials.gov public record
Updated Aug 24, 2026 · Synced Sep 17, 2026, 5:15 AM EDT
Completed Not applicable Interventional Results available

North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2

NCT03548779
View directory record Official record
Conditions
Epilepsy; Seizure, Neuromuscular Diseases, Brain Malformation, Intellectual Disability, Autism Spectrum Disorder, Hypotonia, Inborn Errors of Metabolism, Movement Disorders, Genetic Disease, Development Delay, Chromosome Abnormality, Hearing Loss, Dysmorphic Features, Skeletal Dysplasia, Congenital Abnormality, Microcephaly, Macrocephaly
Interventions
Pre-visit prep, usual care + exome seq
Behavioral · Diagnostic Test
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
0 Years and older
Enrollment
548 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2024
U.S. locations
3
States / cities
Asheville, North Carolina • Chapel Hill, North Carolina • Greenville, North Carolina
Source: ClinicalTrials.gov public record
Updated May 12, 2025 · Synced Sep 17, 2026, 5:15 AM EDT
Completed Phase 1 Interventional

Safety & Efficacy Study of Oral Panobinostat (LBH589) With Chemotherapy in Patients < 65 Years Old With Acute Myeloid Leukemia (AML)

NCT01242774
View directory record Official record
Conditions
Acute Myeloid Leukemia (AML)
Interventions
Panobinostat
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years to 65 Years
Enrollment
46 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2014
U.S. locations
5
States / cities
Stanford, California • Boston, Massachusetts • Columbus, Ohio + 2 more
Source: ClinicalTrials.gov public record
Updated Dec 18, 2020 · Synced Sep 17, 2026, 5:15 AM 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 Sep 17, 2026, 5:15 AM EDT
Recruiting Not applicable Interventional

Brain Outcomes With Lifestyle Change in Down Syndrome

NCT05985486
View directory record Official record
Conditions
Down Syndrome, Alzheimer Disease, Obesity
Interventions
Diet, Health Education
Behavioral
Lead sponsor
University of Kansas Medical Center
Other
Eligibility
18 Years to 64 Years
Enrollment
81 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2027
U.S. locations
1
States / cities
Kansas City, Kansas
Source: ClinicalTrials.gov public record
Updated Mar 10, 2026 · Synced Sep 17, 2026, 5:15 AM 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 20, 2023 · Synced Sep 17, 2026, 5:15 AM EDT
Completed Phase 4 Interventional Accepts healthy volunteers Results available

Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism

NCT00837616
View directory record Official record
Conditions
Turner Syndrome, Hypogonadism, Premature Ovarian Failure
Interventions
17 B estradiol orally, 17 B estradiol
Drug
Lead sponsor
Nemours Children's Clinic
Other
Eligibility
13 Years to 20 Years · Female only
Enrollment
41 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2009 – 2012
U.S. locations
2
States / cities
Jacksonville, Florida • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated May 15, 2023 · Synced Sep 17, 2026, 5:15 AM EDT