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ClinicalTrials.gov public records Last synced Oct 6, 2026, 10:23 AM EDT

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Showing 73–96 of 530 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Chromosome Abnormality Clear all
Completed Not applicable Interventional Accepts healthy volunteers

Polar Body Biopsy for Preimplantation Genetic Screening

NCT01574404
View directory record Official record
Conditions
Aneuploidy
Interventions
Polar body biopsy with PGS
Procedure
Lead sponsor
Weill Medical College of Cornell University
Other
Eligibility
18 Years to 42 Years
Enrollment
33 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2014
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jun 11, 2015 · Synced Oct 6, 2026, 10:23 AM EDT
Active, not recruiting Phase 3 Interventional

Phase 3 Efficacy and Safety Study of GTX-102 in Pediatric Subjects With Angelman Syndrome (AS)

NCT06617429
View directory record Official record
Conditions
Angelman Syndrome
Interventions
GTX-102, Sham-LP
Drug · Procedure
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
4 Years to 17 Years
Enrollment
129 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2027
U.S. locations
14
States / cities
Los Angeles, California • San Diego, California • San Francisco, California + 11 more
Source: ClinicalTrials.gov public record
Updated Aug 6, 2026 · Synced Oct 6, 2026, 10:23 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

PWS Outcomes Assessment Study

NCT04102839
View directory record Official record
Conditions
Prader-Willi Syndrome
Interventions
Interview
Other
Lead sponsor
Soleno Therapeutics, Inc.
Industry
Eligibility
18 Years and older
Enrollment
59 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2021
U.S. locations
1
States / cities
Plymouth, Massachusetts
Source: ClinicalTrials.gov public record
Updated Nov 4, 2024 · Synced Oct 6, 2026, 10:23 AM 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 6, 2026, 10:23 AM EDT
Completed Phase 1 Interventional Results available

CD19/CD22 Chimeric Antigen Receptor (CAR) T Cells in Children and Young Adults With Recurrent or Refractory CD19/CD22-expressing B Cell Malignancies

NCT03448393
View directory record Official record
Conditions
Lymphoma, Non-Hodgkin, Leukemia, Lymphocytic, B Cell, B-Cell Lymphoma, B-Cell Leukemia, Acute Lymphoid Leukemia, B-Non Hodgkin Lymphoma, B-NHL, B-All, Acute Lymphoblastic Leukemia, Acute Lymphocytic Leukemia
Interventions
CD19/CD22 CAR T-Cells, Fludarabine, Cyclophosphamide, Apheresis, Anti-emetic, Diphenhydramine, Acetaminophen, ECG, ECHO, MRI Brain, Bone marrow biopsy, Cardiac MRI
Biological · Drug · Procedure + 2 more
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
3 Years to 39 Years
Enrollment
54 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2025
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jun 4, 2025 · Synced Oct 6, 2026, 10:23 AM EDT
Enrolling by invitation Not applicable Interventional Accepts healthy volunteers

Parent and Infant Inter(X)Action Intervention (PIXI)

NCT03836300
View directory record Official record
Conditions
Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Dup15Q Syndrome, Duchenne Muscular Dystrophy, Phelan-McDermid Syndrome, Rett Syndrome, Smith Magenis Syndrome, Williams Syndrome, Turner Syndrome, Klinefelter Syndrome, Chromosome 22q11.2 Deletion Syndrome, Tuberous Sclerosis, Down Syndrome
Interventions
Parent-Infant Inter(X)action Intervention (PIXI)
Behavioral
Lead sponsor
RTI International
Other
Eligibility
Up to 99 Years
Enrollment
120 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2026
U.S. locations
1
States / cities
Research Triangle Park, North Carolina
Source: ClinicalTrials.gov public record
Updated Jul 13, 2026 · Synced Oct 6, 2026, 10:23 AM 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 6, 2026, 10:23 AM EDT
Terminated No phase listed Observational

Infant Weight Gain With Trisomy 21 and CAVC

NCT00327951
View directory record Official record
Conditions
Congenital Disorders
Interventions
Not listed
Lead sponsor
Children's Healthcare of Atlanta
Other
Eligibility
Up to 1 Year
Enrollment
46 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2001 – 2008
U.S. locations
1
States / cities
Atlanta, Georgia
Source: ClinicalTrials.gov public record
Updated Mar 16, 2012 · Synced Oct 6, 2026, 10:23 AM EDT
Terminated Not applicable Interventional

Home-based SSP on Individuals With PWS

NCT03871751
View directory record Official record
Conditions
Prader-Willi Syndrome
Interventions
Safe and Sound Protocol
Behavioral
Lead sponsor
Indiana University
Other
Eligibility
3 Years to 17 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Mar 7, 2022 · Synced Oct 6, 2026, 10:23 AM EDT
Completed No phase listed Observational

Clinical Evaluation of the SEQureDx T21 Test In High Risk Pregnancies

NCT01555346
View directory record Official record
Conditions
Down Syndrome, Fetal Aneuploidy
Interventions
Not listed
Lead sponsor
Sequenom, Inc.
Industry
Eligibility
18 Years to 60 Years · Female only
Enrollment
3,062 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2015
U.S. locations
27
States / cities
Mobile, Alabama • Tucson, Arizona • Campbell, California + 24 more
Source: ClinicalTrials.gov public record
Updated Apr 20, 2016 · Synced Oct 6, 2026, 10:23 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Angelman Syndrome Video Assessment (ASVA) Source Material Study

NCT05637697
View directory record Official record
Conditions
Angelman Syndrome
Interventions
Not listed
Lead sponsor
The Emmes Company, LLC
Industry
Eligibility
1 Year and older
Enrollment
73 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2023
U.S. locations
1
States / cities
Kingston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Dec 13, 2023 · Synced Oct 6, 2026, 10:23 AM EDT
Completed Phase 2 Interventional

Effects of CX516 on Functioning in Fragile X Syndrome and Autism

NCT00054730
View directory record Official record
Conditions
Fragile X Syndrome, Autism
Interventions
CX516 (Ampalex®)
Drug
Lead sponsor
RespireRx
Industry
Eligibility
18 Years to 50 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2002
U.S. locations
2
States / cities
Sacramento, California • Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 6, 2026, 10:23 AM EDT
Terminated Phase 2 Interventional

A Study of RO5186582 in Down Syndrome Among Children 6 to 11 Years of Age

NCT02484703
View directory record Official record
Conditions
Down Syndrome
Interventions
Placebo, RO5186582
Drug
Lead sponsor
Hoffmann-La Roche
Industry
Eligibility
6 Years to 11 Years
Enrollment
45 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2016
U.S. locations
9
States / cities
Phoenix, Arizona • Decatur, Georgia • Chicago, Illinois + 5 more
Source: ClinicalTrials.gov public record
Updated Jul 6, 2017 · Synced Oct 6, 2026, 10:23 AM EDT
Completed No phase listed Observational

Pediatric Patients With Metabolic or Other Genetic Disorders

NCT02769949
View directory record Official record
Conditions
Genetic Disorder, Asperger Disorder, Autism Spectrum Disorder, Fragile X Syndrome, Developmental Delay
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
1 Year to 99 Years
Enrollment
96 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2025
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 2, 2026 · Synced Oct 6, 2026, 10:23 AM EDT
Completed No phase listed Observational Accepts healthy volunteers Results available

National Prevalence and Impact of Noninvasive Prenatal Testing

NCT02284399
View directory record Official record
Conditions
Aneuploidy
Interventions
non-invasive prenatal testing
Other
Lead sponsor
Obstetrix Medical Group
Industry
Eligibility
18 Years to 60 Years · Female only
Enrollment
4,488 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2016
U.S. locations
7
States / cities
Phoenix, Arizona • Long Beach, California • San Jose, California + 4 more
Source: ClinicalTrials.gov public record
Updated Jun 19, 2019 · Synced Oct 6, 2026, 10:23 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Brain-Derived Neurotrophic Factor in Obesity and Brain Function

NCT01517048
View directory record Official record
Conditions
Obesity, Genetic Disorder, Mental Retardation, Developmental Delay
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
Up to 99 Years
Enrollment
93 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2014
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 17, 2019 · Synced Oct 6, 2026, 10:23 AM EDT
Withdrawn Phase 2 Interventional

Pediatric-Inspired Chemotherapy Plus Tyrosine Kinase Inhibitor in Adult Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia

NCT04845035
View directory record Official record
Conditions
Acute Lymphoblastic Leukemia
Interventions
Dasatinib, Ponatinib, Berlin-Frankfurt-Münster Chemotherapy, Methotrexate and Cytarabine
Drug
Lead sponsor
University of Michigan Rogel Cancer Center
Other
Eligibility
18 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2029
U.S. locations
1
States / cities
Ann Arbor, Michigan
Source: ClinicalTrials.gov public record
Updated Feb 22, 2024 · Synced Oct 6, 2026, 10:23 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study

NCT00105274
View directory record Official record
Conditions
DiGeorge Syndrome, Velocardiofacial Syndrome, 22q11.2 Syndrome
Interventions
Not listed
Lead sponsor
National Institute of Mental Health (NIMH)
NIH
Eligibility
18 Years to 50 Years
Healthy volunteers
Accepts healthy volunteers
Timeline
2005 – 2010
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 2, 2017 · Synced Oct 6, 2026, 10:23 AM EDT
Active, not recruiting Phase 3 Interventional Results available

A Research Study Looking at How Safe Somapacitan is and How Well it Works in Children Who Need Help to Grow - REAL 9

NCT05723835
View directory record Official record
Conditions
SGA, Turner Syndrome, Noonan Syndrome, ISS
Interventions
Somapacitan
Drug
Lead sponsor
Novo Nordisk A/S
Industry
Eligibility
10 Years to 18 Years
Enrollment
47 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2027
U.S. locations
6
States / cities
Birmingham, Alabama • Sacramento, California • Centennial, Colorado + 3 more
Source: ClinicalTrials.gov public record
Updated Aug 13, 2026 · Synced Oct 6, 2026, 10:23 AM EDT
Completed No phase listed Observational

Protein Synthesis in the Brain of Patients With Fragile X Syndrome

NCT00362843
View directory record Official record
Conditions
Fragile X Syndrome, Healthy Volunteers
Interventions
[15-O]water
Drug
Lead sponsor
National Institute of Mental Health (NIMH)
NIH
Eligibility
18 Years to 24 Years · Male only
Enrollment
147 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2020
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 8, 2024 · Synced Oct 6, 2026, 10:23 AM EDT
Not yet recruiting Phase 1 Interventional

Escalating Doses of Memantine in Down Syndrome (MEDS-123)

NCT07531940
View directory record Official record
Conditions
Down Syndrome, Intellectual Disability, Alzheimer Dementia (AD)
Interventions
Memantine
Drug
Lead sponsor
University Hospitals Cleveland Medical Center
Other
Eligibility
18 Years to 32 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
1
States / cities
Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Oct 5, 2026 · Synced Oct 6, 2026, 10:23 AM EDT
Completed Phase 2 Interventional Results available

RA-2 13-cis Retinoic Acid (Isotretinoin)

NCT02061384
View directory record Official record
Conditions
Male Infertility, Klinefelter's Syndrome, Y-chromosome Microdeletions
Interventions
13-cis retinoic acid, Calcitriol
Drug
Lead sponsor
University of Washington
Other
Eligibility
21 Years to 60 Years · Male only
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2018
U.S. locations
1
States / cities
Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Aug 2, 2021 · Synced Oct 6, 2026, 10:23 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Risk of Diabetes in Young Turner Syndrome Patients

NCT02160717
View directory record Official record
Conditions
Turner Syndrome
Interventions
Not listed
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
6 Years to 22 Years · Female only
Enrollment
120 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2017
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Aug 23, 2017 · Synced Oct 6, 2026, 10:23 AM EDT
Active, not recruiting Phase 2 Interventional

A Study of Setmelanotide in Patients With Prader-Willi Syndrome

NCT06772597
View directory record Official record
Conditions
Prader-Willi Syndrome, Obesity, Hyperphagia
Interventions
Setmelanotide
Drug
Lead sponsor
Rhythm Pharmaceuticals, Inc.
Industry
Eligibility
6 Years to 65 Years
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
1
States / cities
Gainesville, Florida
Source: ClinicalTrials.gov public record
Updated Feb 12, 2026 · Synced Oct 6, 2026, 10:23 AM EDT