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ClinicalTrials.gov public records Last synced Oct 20, 2026, 3:14 PM EDT

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Showing 25–48 of 559 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Chromosomal Abnormalities Clear all
Completed Not applicable Interventional

Computerized Cognitive Skills Training for Adolescents With Velocardiofacial Syndrome

NCT00917189
View directory record Official record
Conditions
Velocardiofacial Syndrome
Interventions
Challenging Our Minds Program
Behavioral
Lead sponsor
State University of New York - Upstate Medical University
Other
Eligibility
12 Years to 16 Years
Enrollment
37 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2015
U.S. locations
1
States / cities
Syracuse, New York
Source: ClinicalTrials.gov public record
Updated Oct 21, 2016 · Synced Oct 20, 2026, 3:14 PM EDT
Enrolling by invitation Not applicable Interventional

Long-term Evaluation of Nasopharyngeal Airway in Hypotonia

NCT06614582
View directory record Official record
Conditions
Hypotonia, Muscle, Obstructive Sleep Apnea, Nasal Airway Obstruction
Interventions
Self-Supporting Nasopharyngeal Airway (ssNPA)
Device
Lead sponsor
University of Michigan
Other
Eligibility
3 Years to 23 Years
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
1
States / cities
Ann Arbor, Michigan
Source: ClinicalTrials.gov public record
Updated Dec 2, 2025 · Synced Oct 20, 2026, 3:14 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 20, 2026, 3:14 PM EDT
Completed Early Phase 1 Interventional

Angelman Syndrome (AS) Biomarker Study

NCT04103333
View directory record Official record
Conditions
Angelman Syndrome, Chromosome 15q Duplication (dup15q) Syndrome
Interventions
Lumbar Puncture, Blood Collection
Procedure
Lead sponsor
Biogen
Industry
Eligibility
Up to 50 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2022
U.S. locations
5
States / cities
San Diego, California • Chicago, Illinois • Boston, Massachusetts + 2 more
Source: ClinicalTrials.gov public record
Updated Jan 28, 2022 · Synced Oct 20, 2026, 3:14 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 Aug 1, 2023 · Synced Oct 20, 2026, 3:14 PM EDT
Recruiting No phase listed Observational

Patterns of Neurodevelopmental Disorders

NCT06213090
View directory record Official record
Conditions
Neurodevelopmental Disorders, Autism Spectrum Disorder, Pediatric Autoimmune Neuropsychiatric Disorder Associated With Streptococcal Infection, Pediatric Acute-Onset Neuropsychiatric Syndrome, Down Syndrome, Epilepsy, Mitochondrial Encephalomyopathies, Cerebral Folate Deficiency
Interventions
Not listed
Lead sponsor
Richard Frye
Other
Eligibility
Not listed
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2030
U.S. locations
1
States / cities
Phoenix, Arizona
Source: ClinicalTrials.gov public record
Updated Apr 16, 2026 · Synced Oct 20, 2026, 3:14 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 8, 2026 · Synced Oct 20, 2026, 3:14 PM EDT
Completed Not applicable Interventional Results available

Use of Partial Body Weight Support Play Environment to Encourage Mobility and Exploration in Infants With Down Syndrome

NCT05307523
View directory record Official record
Conditions
Down Syndrome, Trisomy 21
Interventions
Enriched Play Environment with Partial Body Weight Support Harness, Enriched Play Environment without Partial Body Weight Support Harness
Device · Other
Lead sponsor
University of Washington
Other
Eligibility
Up to 36 Months
Enrollment
17 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2023
U.S. locations
1
States / cities
Seattle, Washington
Source: ClinicalTrials.gov public record
Updated May 2, 2024 · Synced Oct 20, 2026, 3:14 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 20, 2026, 3:14 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

High Risk Multiple Gestation Study

NCT02278874
View directory record Official record
Conditions
Trisomy 13, Trisomy 18, Trisomy 21, Sex Chromosome Abnormalities
Interventions
Not listed
Lead sponsor
Natera, Inc.
Industry
Eligibility
18 Years and older
Enrollment
99 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2019
U.S. locations
4
States / cities
Boston, Massachusetts • Glen Cove, New York • New York, New York + 1 more
Source: ClinicalTrials.gov public record
Updated Jun 13, 2019 · Synced Oct 20, 2026, 3:14 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Use of Videos to Improve Patient Knowledge on Prenatal Genetics

NCT03816423
View directory record Official record
Conditions
Aneuploidy, Birth Defect
Interventions
video
Other
Lead sponsor
University of South Florida
Other
Eligibility
18 Years and older · Female only
Enrollment
106 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2020
U.S. locations
1
States / cities
Tampa, Florida
Source: ClinicalTrials.gov public record
Updated May 19, 2020 · Synced Oct 20, 2026, 3:14 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 24, 2023 · Synced Oct 20, 2026, 3:14 PM EDT
Terminated Phase 1 Interventional

Initiating Transdermal Estradiol Therapy in Turner's Syndrome

NCT00870220
View directory record Official record
Conditions
Turner's Syndrome
Interventions
Norditropin, Menostar 14mcg patch, Vivelle dot 25mcg patch
Drug
Lead sponsor
University of Chicago
Other
Eligibility
138 Months to 13 Years · Female only
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2011
U.S. locations
3
States / cities
Chicago, Illinois • Baltimore, Maryland • Ann Arbor, Michigan
Source: ClinicalTrials.gov public record
Updated Mar 11, 2014 · Synced Oct 20, 2026, 3:14 PM EDT
Completed Phase 3 Interventional

A Study of BPN14770 in Male Adults (Aged 18 to 45) With Fragile X Syndrome

NCT05358886
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
BPN14770/ zatolmilast, Placebo
Drug
Lead sponsor
Tetra Discovery Partners
Industry
Eligibility
18 Years to 45 Years · Male only
Enrollment
171 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2025
U.S. locations
17
States / cities
Irvine, California • Orange, California • Sacramento, California + 14 more
Source: ClinicalTrials.gov public record
Updated Jul 10, 2026 · Synced Oct 20, 2026, 3:14 PM EDT
Completed No phase listed Observational

Pulmonary Hypertension in Trisomy 21 Patients

NCT00478296
View directory record Official record
Conditions
Congenital Disorders
Interventions
Not listed
Lead sponsor
Children's Healthcare of Atlanta
Other
Eligibility
Up to 8 Days
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2008
U.S. locations
1
States / cities
Atlanta, Georgia
Source: ClinicalTrials.gov public record
Updated Mar 16, 2012 · Synced Oct 20, 2026, 3:14 PM EDT
Completed No phase listed Observational

Biomarker and DNA Collection in Subjects Participating in Protocol 22003

NCT00892580
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
STX209
Drug
Lead sponsor
Seaside Therapeutics, Inc.
Industry
Eligibility
6 Years to 17 Years
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2009
U.S. locations
8
States / cities
Phoenix, Arizona • Los Angeles, California • New Haven, Connecticut + 5 more
Source: ClinicalTrials.gov public record
Updated Jul 31, 2013 · Synced Oct 20, 2026, 3:14 PM EDT
Completed No phase listed Observational

Cardiometabolic Profiles of Boys With Klinefelter Syndrome

NCT02723305
View directory record Official record
Conditions
Klinefelter Syndrome, 47,XXY, Sex Chromosome Aneuploidy, XXY Syndrome
Interventions
No intervention
Other
Lead sponsor
University of Colorado, Denver
Other
Eligibility
12 Years to 17 Years · Male only
Enrollment
31 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2017
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Mar 8, 2022 · Synced Oct 20, 2026, 3:14 PM EDT
Completed Not applicable Interventional Results available

Thymus Transplantation Safety-Efficacy

NCT01220531
View directory record Official record
Conditions
Complete DiGeorge Anomaly, DiGeorge Syndrome, DiGeorge Anomaly, Complete DiGeorge Syndrome
Interventions
Cultured Thymus Tissue
Biological
Lead sponsor
Sumitomo Pharma Switzerland GmbH
Industry
Eligibility
Not listed
Enrollment
29 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2023
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Jan 16, 2025 · Synced Oct 20, 2026, 3:14 PM EDT
Not listed No phase listed Observational

Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome

NCT00005102
View directory record Official record
Conditions
DiGeorge Syndrome, Shprintzen Syndrome, Chromosome Abnormalities, Abnormalities, Multiple, Conotruncal Cardiac Defects
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1995
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 20, 2026, 3:14 PM EDT
Completed No phase listed Observational

The Experience of Caregivers of Children With Down Syndrome

NCT00695695
View directory record Official record
Conditions
Down Syndrome
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years and older
Enrollment
546 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2014
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 17, 2019 · Synced Oct 20, 2026, 3:14 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 20, 2026, 3:14 PM EDT
Terminated No phase listed Observational

Accuracy Testing of the Chromosomal Aberration and Gene Mutation Markers of the AMLProfiler

NCT01463410
View directory record Official record
Conditions
Acute Myeloid Leukemia (AML), Acute Promyelocytic Leukemia (APL), Refractory Anemia With Excess of Blasts (RAEB)
Interventions
Not listed
Lead sponsor
Skyline Diagnostics BV
Industry
Eligibility
18 Years and older
Enrollment
264 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2013
U.S. locations
2
States / cities
New York, New York • Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated May 29, 2013 · Synced Oct 20, 2026, 3:14 PM EDT
Not listed Phase 2 Interventional

Vosoritide for Short Stature in Turner Syndrome

NCT05849389
View directory record Official record
Conditions
Turner Syndrome, Short Stature
Interventions
Vosoritide
Drug
Lead sponsor
Roopa Kanakatti Shankar, MBBS, MS
Other
Eligibility
3 Years to 11 Years · Female only
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Source: ClinicalTrials.gov public record
Updated Jun 24, 2024 · Synced Oct 20, 2026, 3:14 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

An Online Health Tool About Down Syndrome: Down Syndrome Clinic to You

NCT04227197
View directory record Official record
Conditions
Down Syndrome
Interventions
Down Syndrome Clinic to You (DSC2U)
Other
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
1 Year and older
Enrollment
281 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2019
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jun 14, 2022 · Synced Oct 20, 2026, 3:14 PM EDT