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ClinicalTrials.gov public records Last synced Oct 21, 2026, 3:58 PM EDT

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Showing 241–264 of 559 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Chromosomal Abnormalities Clear all
Terminated Not applicable Interventional Accepts healthy volunteers

Learning by Repetitive Viewing of Peer Modeling Patient Education Videos by Adults With Down Syndrome

NCT03551418
View directory record Official record
Conditions
Down Syndrome, Trisomy 21
Interventions
Watching a video
Behavioral
Lead sponsor
Wake Forest University Health Sciences
Other
Eligibility
18 Years and older
Enrollment
21 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2020
U.S. locations
1
States / cities
Park Ridge, Illinois
Source: ClinicalTrials.gov public record
Updated Nov 4, 2024 · Synced Oct 21, 2026, 3:58 PM EDT
Recruiting Phase 2 Interventional

A Study to Evaluate Mivelsiran in Adult Participants With Early-Stage Down Syndrome-Associated Alzheimer's Disease (DS-AD)

NCT07636811
View directory record Official record
Conditions
Down Syndrome-Associated Alzheimer's Disease (DS-AD)
Interventions
Mivelsiran, Placebo
Drug
Lead sponsor
Alnylam Pharmaceuticals
Industry
Eligibility
40 Years to 55 Years
Enrollment
58 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2031
U.S. locations
4
States / cities
Maitland, Florida • Naples, Florida • Indianapolis, Indiana + 1 more
Source: ClinicalTrials.gov public record
Updated Oct 13, 2026 · Synced Oct 21, 2026, 3:58 PM EDT
Enrolling by invitation Phase 3 Interventional

A Study of Pitolisant in Participants With Prader-Willi Syndrome

NCT07219485
View directory record Official record
Conditions
Prader-Willi Syndrome
Interventions
Pitolisant
Drug
Lead sponsor
Harmony Biosciences Management, Inc.
Industry
Eligibility
7 Years and older
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2030
U.S. locations
1
States / cities
Morrisville, North Carolina
Source: ClinicalTrials.gov public record
Updated Mar 17, 2026 · Synced Oct 21, 2026, 3:58 PM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

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

NCT06560242
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
Speech discrimination
Other
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
6 Months to 26 Months
Enrollment
30 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, 2026 · Synced Oct 21, 2026, 3:58 PM EDT
Recruiting No phase listed Observational

DS-Connect®: The Down Syndrome Registry

NCT01950624
View directory record Official record
Conditions
Down Syndrome
Interventions
Not listed
Lead sponsor
University of Colorado, Denver
Other
Eligibility
Not listed
Enrollment
100,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2035
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Jan 31, 2025 · Synced Oct 21, 2026, 3:58 PM EDT
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 9, 2024 · Synced Oct 21, 2026, 3:58 PM 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, 3:58 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Blood Flow Regulation in Individuals With Down Syndrome - Training Study

NCT04854122
View directory record Official record
Conditions
Down Syndrome
Interventions
Combined exercise intervention, Usual care / Sham intervention
Behavioral
Lead sponsor
University of Nevada, Las Vegas
Other
Eligibility
18 Years to 35 Years
Enrollment
60 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2024
U.S. locations
1
States / cities
Las Vegas, Nevada
Source: ClinicalTrials.gov public record
Updated Feb 4, 2026 · Synced Oct 21, 2026, 3:58 PM EDT
Completed Phase 1 Interventional

An Initial Study of AZD7325 in Adults With Fragile X Syndrome

NCT03140813
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
AZD7325 (High-Dose), AZD7325 (Low-Dose), Placebo oral capsule
Drug
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
18 Years to 50 Years
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Feb 8, 2021 · Synced Oct 21, 2026, 3:58 PM EDT
Active, not recruiting Phase 3 Interventional

Long-term Extension of GTX-102 in Angelman Syndrome

NCT06415344
View directory record Official record
Conditions
Angelman Syndrome
Interventions
GTX-102
Drug
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
Not listed
Enrollment
255 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2029
U.S. locations
6
States / cities
Los Angeles, California • San Diego, California • Atlanta, Georgia + 3 more
Source: ClinicalTrials.gov public record
Updated Sep 9, 2026 · Synced Oct 21, 2026, 3:58 PM EDT
Recruiting Not applicable Interventional

How Simplified Language Affects Comprehension and Learning in Young Children With Down Syndrome

NCT06951516
View directory record Official record
Conditions
Down Syndrome
Interventions
Linguistic simplification
Behavioral
Lead sponsor
Michigan State University
Other
Eligibility
2 Years to 7 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
1
States / cities
East Lansing, Michigan
Source: ClinicalTrials.gov public record
Updated Jun 12, 2026 · Synced Oct 21, 2026, 3:58 PM EDT
Completed Not applicable Interventional Results available

Effect of Growth Hormone on Early Brain Development in Girls With Turner Syndrome

NCT01367834
View directory record Official record
Conditions
Turner Syndrome
Interventions
somatotropin
Drug
Lead sponsor
Rebecca Knickmeyer Santelli, PhD
Other
Eligibility
11 Months to 13 Months · Female only
Enrollment
17 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2014
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Mar 24, 2017 · Synced Oct 21, 2026, 3:58 PM EDT
Recruiting Phase 3 Interventional

A Study of Pitolisant in Patients With Prader-Willi Syndrome

NCT06366464
View directory record Official record
Conditions
Prader-Willi Syndrome
Interventions
Pitolisant tablet, Placebo tablet
Drug · Other
Lead sponsor
Harmony Biosciences Management, Inc.
Industry
Eligibility
6 Years and older
Enrollment
134 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2028
U.S. locations
23
States / cities
Los Angeles, California • Sacramento, California • San Diego, California + 16 more
Source: ClinicalTrials.gov public record
Updated Aug 25, 2026 · Synced Oct 21, 2026, 3:58 PM EDT
Completed Not applicable Interventional Results available

Effects of Exenatide on Overweight Adolescents With Prader-Willi Syndrome

NCT01444898
View directory record Official record
Conditions
Prader-Willi Syndrome
Interventions
Exenatide
Drug
Lead sponsor
Children's Hospital Los Angeles
Other
Eligibility
13 Years to 20 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2013
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Sep 29, 2016 · Synced Oct 21, 2026, 3:58 PM EDT
Recruiting Phase 4 Interventional

Bleeding Patterns in Sequential and Continuous Progesterone Supplementation in Adolescents With Turner Syndrome

NCT06834594
View directory record Official record
Conditions
Turner Syndrome, Primary Ovarian Insufficiency (Poi)
Interventions
Micronized progesterone 200 MG, Micronized Progesterone 100 MG
Drug
Lead sponsor
Children's Mercy Hospital Kansas City
Other
Eligibility
12 Years to 20 Years · Female only
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
1
States / cities
Kansas City, Missouri
Source: ClinicalTrials.gov public record
Updated Aug 25, 2026 · Synced Oct 21, 2026, 3:58 PM EDT
Active, not recruiting Phase 3 Interventional Results available

A Study to Investigate Tolerability and Efficacy of Asciminib (Oral) Versus Nilotinib (Oral) in Adult Participants (≥18 Years of Age) With Newly Diagnosed Philadelphia Chromosome Positive Chronic Myelogenous Leukemia in Chronic Phase (Ph+ CML-CP)

NCT05456191
View directory record Official record
Conditions
Philadelphia Chromosome-Positive Chronic Myeloid Leukemia
Interventions
Asciminib, Nilotinib
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years to 100 Years
Enrollment
568 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2031
U.S. locations
9
States / cities
Denver, Colorado • Peoria, Illinois • Saint Paul, Minnesota + 5 more
Source: ClinicalTrials.gov public record
Updated Aug 26, 2026 · Synced Oct 21, 2026, 3:58 PM EDT
Active, not recruiting Phase 3 Interventional

A Research Study to Compare Somapacitan Once a Week With Norditropin® Once a Day in Children Who Need Help to Grow

NCT05330325
View directory record Official record
Conditions
SGA, Turner Syndrome, Noonan Syndrome, ISS
Interventions
Somapacitan, Norditropin®
Drug
Lead sponsor
Novo Nordisk A/S
Industry
Eligibility
2 Years to 10 Years
Enrollment
412 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
35
States / cities
Birmingham, Alabama • Los Angeles, California • Sacramento, California + 32 more
Source: ClinicalTrials.gov public record
Updated Jun 12, 2026 · Synced Oct 21, 2026, 3:58 PM EDT
Completed Phase 2Phase 3 Interventional

A Trial of Metformin in Individuals With Fragile X Syndrome

NCT03479476
View directory record Official record
Conditions
Fragile X Syndrome, Fragile X Mental Retardation Syndrome, Mental Retardation, X Linked, Genetic Diseases, X-Linked, Trinucleotide Repeat Expansion, Fra(X) Syndrome, Intellectual Disability, FXS, Neurobehavioral Manifestations, Sex Chromosome Disorders
Interventions
Placebo Medication, Metformin
Drug
Lead sponsor
University of California, Davis
Other
Eligibility
6 Years to 25 Years
Enrollment
120 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2024
U.S. locations
1
States / cities
Sacramento, California
Source: ClinicalTrials.gov public record
Updated Jan 17, 2025 · Synced Oct 21, 2026, 3:58 PM EDT
Recruiting Phase 2 Interventional

Study of MRM-3379 in Male Participants With Fragile X Syndrome (BLOOM)

NCT07209462
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
Low dose of MRM-3379, Middle Dose of MRM-3379, High dose of MRM-3379, Placebo, Low dose of MRM-3379 Open-Label
Drug
Lead sponsor
Mirum Pharmaceuticals, Inc.
Industry
Eligibility
13 Years to 45 Years · Male only
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
15
States / cities
Phoenix, Arizona • Irvine, California • Orange, California + 12 more
Source: ClinicalTrials.gov public record
Updated Sep 29, 2026 · Synced Oct 21, 2026, 3:58 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 21, 2026, 3:58 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Development of a Newborn Screening Assay for Angelman Syndrome and Prader-Willi Syndrome

NCT05783791
View directory record Official record
Conditions
Angelman Syndrome, Prader-Willi Syndrome
Interventions
Newborn Screening Assay
Diagnostic Test
Lead sponsor
University of Wisconsin, Madison
Other
Eligibility
Not listed
Enrollment
11 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023
U.S. locations
1
States / cities
Madison, Wisconsin
Source: ClinicalTrials.gov public record
Updated Sep 6, 2023 · Synced Oct 21, 2026, 3:58 PM EDT
Completed Phase 2 Interventional Results available

Thymus Transplantation in DiGeorge Syndrome #668

NCT00576407
View directory record Official record
Conditions
DiGeorge Syndrome, Complete Typical DiGeorge Anomaly
Interventions
Cultured Thymus Tissue for Implantation (CTTI)
Biological
Lead sponsor
Sumitomo Pharma Switzerland GmbH
Industry
Eligibility
Not listed
Enrollment
26 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1991 – 2017
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Mar 25, 2022 · Synced Oct 21, 2026, 3:58 PM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Amyloid Plaque and Tangle Imaging in Alzheimer's Disease and Down Syndrome

NCT00965835
View directory record Official record
Conditions
Down Syndrome, Alzheimer's Disease
Interventions
Not listed
Lead sponsor
National Institute on Aging (NIA)
NIH
Eligibility
21 Years and older
Enrollment
40 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2009 – 2011
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Dec 29, 2009 · Synced Oct 21, 2026, 3:58 PM EDT
Completed Phase 2 Interventional Accepts healthy volunteers

Building Sentences With Preschoolers Who Use AAC

NCT03538925
View directory record Official record
Conditions
Down Syndrome, Speech and Language Disorder, Speech Disorders in Children, Speech Intelligibility, Speech Sound Disorder
Interventions
AAC Generative Language Intervention, Standard of Care / Business as Usual
Behavioral
Lead sponsor
University of Central Florida
Other
Eligibility
3 Years to 4 Years
Enrollment
70 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2023
U.S. locations
2
States / cities
Orlando, Florida • Albuquerque, New Mexico
Source: ClinicalTrials.gov public record
Updated Jan 8, 2024 · Synced Oct 21, 2026, 3:58 PM EDT