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ClinicalTrials.gov public records Last synced Oct 2, 2026, 11:26 AM EDT

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Showing 49–72 of 530 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Chromosome Abnormality Clear all
Terminated Not applicable Interventional Results available

Octreotide Therapy in Children and Young Adults With Prader-Willi Syndrome (PWS)

NCT00399893
View directory record Official record
Conditions
Prader-Willi Syndrome
Interventions
Octreotide, Placebo
Drug
Lead sponsor
Duke University
Other
Eligibility
5 Years to 21 Years
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2010
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Jul 24, 2014 · Synced Oct 2, 2026, 11:26 AM EDT
Recruiting No phase listed Observational

Gonadal Tissue Freezing for Fertility Preservation in Individuals at Risk for Ovarian Dysfunction, Premature Ovarian Insufficiency and Clinically Indicated Gonadectomy

NCT04948658
View directory record Official record
Conditions
Turner Syndrome, Post-menarcheal Adolescents, Ovarian Disfunction, Galactosemia, Variations in Sex Characteristics, Differences in Sex Development
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
2 Years to 35 Years
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2030
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 1, 2026 · Synced Oct 2, 2026, 11:26 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 2, 2017 · Synced Oct 2, 2026, 11:26 AM EDT
Completed No phase listed Observational

Prenatal Screening for Down Syndrome With DNAFirst

NCT01966991
View directory record Official record
Conditions
Trisomy 21, Trisomy 18, Trisomy 13, Monosomy X
Interventions
Not listed
Lead sponsor
Women and Infants Hospital of Rhode Island
Other
Eligibility
18 Years and older · Female only
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2015
U.S. locations
1
States / cities
Providence, Rhode Island
Source: ClinicalTrials.gov public record
Updated Feb 22, 2018 · Synced Oct 2, 2026, 11:26 AM 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 2, 2026, 11:26 AM EDT
Available No phase listed Expanded access

18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Subjects With Hyperinsulinemic Hypoglycemia

NCT01916148
View directory record Official record
Conditions
Congenital Hyperinsulinism (CHI), Beckwith-Wiedemann Syndrome, Insulinoma
Interventions
18F-DOPA
Drug
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
Not listed
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Apr 27, 2026 · Synced Oct 2, 2026, 11:26 AM 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 2, 2026, 11:26 AM EDT
Completed Not applicable Interventional

Klinefelter Fertility Preservation

NCT01817296
View directory record Official record
Conditions
Klinefelter Syndrome
Interventions
Testicular Biopsy
Procedure
Lead sponsor
Boston Children's Hospital
Other
Eligibility
12 Years to 25 Years · Male only
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2013
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated May 15, 2014 · Synced Oct 2, 2026, 11:26 AM EDT
Recruiting Phase 3 Interventional

Compassionate Use Study of Epi-ON Corneal Collagen Crosslinking Performed Using UVA Exposure on Eyes With Ectatic Corneal Diseases for Subjects With Down Syndrome

NCT07135167
View directory record Official record
Conditions
Down Syndrome (DS), Keratoconus, Pellucid Marginal Degeneration, Forme Fruste Keratoconus (FFK)
Interventions
Epi-ON corneal cross-linking (CXL)
Combination Product
Lead sponsor
Woolfson Eye Institute
Other
Eligibility
8 Years and older
Enrollment
225 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
12
States / cities
Atlanta, Georgia • Canton, Georgia • Cumming, Georgia + 8 more
Source: ClinicalTrials.gov public record
Updated Feb 2, 2026 · Synced Oct 2, 2026, 11:26 AM 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 2, 2026, 11:26 AM EDT
Active, not recruiting Phase 3 Interventional Results available

A Study of Oral Asciminib Versus Other TKIs in Adult Patients With Newly Diagnosed Ph+ CML-CP

NCT04971226
View directory record Official record
Conditions
Chronic Myeloid Leukemia (CML) Philadelphia Chromosome Positive
Interventions
Imatinib, Nilotinib, Bosutinib, Dasatinib, Asciminib
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years to 100 Years
Enrollment
405 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2031
U.S. locations
13
States / cities
Denver, Colorado • Fort Myers, Florida • Tallahassee, Florida + 9 more
Source: ClinicalTrials.gov public record
Updated Aug 28, 2026 · Synced Oct 2, 2026, 11:26 AM EDT
Completed No phase listed Observational

Neurocognitive and Psychosocial Outcomes in Survivors of Childhood Leukemia With Down Syndrome

NCT02859389
View directory record Official record
Conditions
Leukemia, Down Syndrome
Interventions
Not listed
Lead sponsor
St. Jude Children's Research Hospital
Other
Eligibility
Not listed
Enrollment
43 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2019
U.S. locations
1
States / cities
Memphis, Tennessee
Source: ClinicalTrials.gov public record
Updated Sep 18, 2019 · Synced Oct 2, 2026, 11:26 AM EDT
Completed Not applicable Interventional

The Impact of an 8-week Supported Exercise Program on Fitness and Symptoms in Adolescents With Down Syndrome

NCT03192540
View directory record Official record
Conditions
Down Syndrome
Interventions
Exercise
Other
Lead sponsor
Boston Children's Hospital
Other
Eligibility
10 Years to 17 Years
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2021
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jan 26, 2022 · Synced Oct 2, 2026, 11:26 AM EDT
Completed No phase listed Observational

A Non-Drug Study of The Suitability of Neurocognitive Tests And Functioning Scales For The Measurement of Cognitive And Functioning Changes in Individuals With Down Syndrome

NCT01580384
View directory record Official record
Conditions
Down Syndrome
Interventions
Not listed
Lead sponsor
Hoffmann-La Roche
Industry
Eligibility
12 Years to 30 Years
Enrollment
90 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2014
U.S. locations
2
States / cities
Tucson, Arizona • Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Mar 3, 2015 · Synced Oct 2, 2026, 11:26 AM EDT
Completed Phase 3 Interventional Results available

Combination Chemotherapy and Surgery in Treating Young Patients With Wilms Tumor

NCT00945009
View directory record Official record
Conditions
Adult Kidney Wilms Tumor, Beckwith-Wiedemann Syndrome, Childhood Kidney Wilms Tumor, Diffuse Hyperplastic Perilobar Nephroblastomatosis, Rhabdoid Tumor of the Kidney, Stage I Kidney Wilms Tumor, Stage II Kidney Wilms Tumor, Stage III Kidney Wilms Tumor, Stage IV Kidney Wilms Tumor, Stage V Kidney Wilms Tumor
Interventions
Dactinomycin, Doxorubicin Hydrochloride, Radiation Therapy, Therapeutic Conventional Surgery, Vincristine Sulfate
Biological · Drug · Radiation + 1 more
Lead sponsor
Children's Oncology Group
Network
Eligibility
Up to 29 Years
Enrollment
249 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2026
U.S. locations
146
States / cities
Birmingham, Alabama • Phoenix, Arizona • Tucson, Arizona + 111 more
Source: ClinicalTrials.gov public record
Updated Jun 3, 2026 · Synced Oct 2, 2026, 11:26 AM EDT
Recruiting Phase 2 Interventional Accepts healthy volunteers

Cholinergic Integrity in Down Syndrome in Association With Aging, Alzheimer's Disease Pathology, and Cognition

NCT05231798
View directory record Official record
Conditions
Down Syndrome, Down Syndrome, Partial Trisomy 21, Alzheimer Disease
Interventions
[18F]-FEOBV Radiotracer
Drug
Lead sponsor
Vanderbilt University Medical Center
Other
Eligibility
18 Years to 55 Years
Enrollment
30 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2027
U.S. locations
1
States / cities
Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Jun 22, 2026 · Synced Oct 2, 2026, 11:26 AM EDT
Active, not recruiting Phase 2Phase 3 Interventional

Open Label Extension to Assess the Long-Term Safety and Tolerability of ZYN002 in Children and Adolescents With FXS

NCT03802799
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
ZYN002 - Cannabidiol Transdermal Gel
Drug
Lead sponsor
Zynerba Pharmaceuticals, Inc.
Industry
Eligibility
3 Years to 29 Years
Enrollment
476 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2026
U.S. locations
19
States / cities
Phoenix, Arizona • Culver City, California • Irvine, California + 16 more
Source: ClinicalTrials.gov public record
Updated May 27, 2026 · Synced Oct 2, 2026, 11:26 AM EDT
Completed No phase listed Observational

Genetic Analysis of Left-Right Axis Formations

NCT00341133
View directory record Official record
Conditions
Congenital Heart Disease
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
Not listed
Enrollment
900 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 2, 2017 · Synced Oct 2, 2026, 11:26 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Defining the Brain Phenotype of Children With Williams Syndrome

NCT01132885
View directory record Official record
Conditions
Williams Syndrome, Duplication
Interventions
Not listed
Lead sponsor
National Institute of Mental Health (NIMH)
NIH
Eligibility
5 Years and older
Enrollment
415 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2011
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 22, 2026 · Synced Oct 2, 2026, 11:26 AM EDT
Completed Phase 1 Interventional

Clinical Study to Assess the Pharmacokinetics, Safety and Tolerability of Single and Multiple Oral Doses of AFQ056 in Children With Fragile X Syndrome (FXS)

NCT01482143
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
AFQ056
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
3 Years to 11 Years
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2013
U.S. locations
3
States / cities
Sacramento, California • Chicago, Illinois • Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Dec 8, 2020 · Synced Oct 2, 2026, 11:26 AM EDT
Completed Phase 2 Interventional

A Study of RG1662 in Adults and Adolescents With Down Syndrome (CLEMATIS)

NCT02024789
View directory record Official record
Conditions
Down Syndrome
Interventions
Placebo, RG1662
Drug
Lead sponsor
Hoffmann-La Roche
Industry
Eligibility
12 Years to 30 Years
Enrollment
173 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2016
U.S. locations
9
States / cities
La Jolla, California • Sacramento, California • Decatur, Georgia + 6 more
Source: ClinicalTrials.gov public record
Updated Oct 25, 2017 · Synced Oct 2, 2026, 11:26 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

The Human Trisome Project

NCT02864108
View directory record Official record
Conditions
Down Syndrome, Trisomy 21
Interventions
Not listed
Lead sponsor
University of Colorado, Denver
Other
Eligibility
6 Months to 89 Years
Enrollment
2,500 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2036
U.S. locations
1
States / cities
Denver, Colorado
Source: ClinicalTrials.gov public record
Updated Oct 24, 2025 · Synced Oct 2, 2026, 11:26 AM EDT
Completed Not applicable Interventional

Self-Monitoring Shopping Intervention

NCT04020302
View directory record Official record
Conditions
Intellectual Disability, Down Syndrome
Interventions
Self-monitoring shopping intervention
Behavioral
Lead sponsor
Columbia University
Other
Eligibility
18 Years to 65 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019
U.S. locations
1
States / cities
Hillsborough, New Jersey
Source: ClinicalTrials.gov public record
Updated Jan 23, 2020 · Synced Oct 2, 2026, 11:26 AM EDT
Recruiting Phase 1Phase 2 Interventional

A Phase 1/2 Study of the Safety and Efficacy of MVX-220 in Angelman Syndrome

NCT07181837
View directory record Official record
Conditions
Angelman Syndrome
Interventions
MVX-220
Genetic
Lead sponsor
MavriX Bio, LLC
Industry
Eligibility
4 Years to 50 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2031
U.S. locations
3
States / cities
Los Angeles, California • Chicago, Illinois • Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jul 24, 2026 · Synced Oct 2, 2026, 11:26 AM EDT