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ClinicalTrials.gov public records Last synced Oct 21, 2026, 10:46 PM EDT

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Showing 337–360 of 559 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Chromosomal Abnormalities Clear all
Completed Phase 2 Interventional Results available

Randomized Controlled Study of Donepezil in Fragile X Syndrome

NCT01120626
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
donepezil, sugar pill
Drug
Lead sponsor
Stanford University
Other
Eligibility
12 Years to 29 Years
Enrollment
45 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2013
U.S. locations
1
States / cities
Stanford, California
Source: ClinicalTrials.gov public record
Updated Mar 17, 2016 · Synced Oct 21, 2026, 10:46 PM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

A PET Brain Imaging Study of mGluR5 in Subjects With Neuropsychiatric Conditions

NCT00870974
View directory record Official record
Conditions
Parkinson Disease, Huntington Disease, Autistic Spectrum Disorders, Fragile X Syndrome, Alzheimer Disease, Mild Cognitive Impairment
Interventions
[18F]FPEB
Drug
Lead sponsor
Institute for Neurodegenerative Disorders
Other
Eligibility
18 Years to 85 Years
Enrollment
48 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2009 – 2016
U.S. locations
1
States / cities
New Haven, Connecticut
Source: ClinicalTrials.gov public record
Updated Jan 6, 2017 · Synced Oct 21, 2026, 10:46 PM EDT
Withdrawn Phase 2 Interventional

Liq-NOL Efficacy in Pediatric Patients With Down Syndrome

NCT00891917
View directory record Official record
Conditions
Down Syndrome
Interventions
Ubiquinol-10 Syrup, syrup (placebo)
Dietary Supplement
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
6 Years to 16 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2012
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Sep 9, 2020 · Synced Oct 21, 2026, 10:46 PM EDT
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 21, 2026, 10:46 PM 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 21, 2026, 10:46 PM EDT
Recruiting No phase listed Observational

Trial-Ready Cohort-Down Syndrome (TRC-DS)

NCT04165109
View directory record Official record
Conditions
Down Syndrome, Alzheimer Disease, Dementia
Interventions
Not listed
Lead sponsor
University of Southern California
Other
Eligibility
25 Years to 55 Years
Enrollment
550 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2027
U.S. locations
18
States / cities
Phoenix, Arizona • Orange, California • Aurora, Colorado + 15 more
Source: ClinicalTrials.gov public record
Updated May 18, 2026 · Synced Oct 21, 2026, 10:46 PM EDT
Completed Phase 2 Interventional

A Safety Study of NNZ-2566 in Patients With Fragile X Syndrome

NCT01894958
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
NNZ-2566, Placebo
Drug
Lead sponsor
Neuren Pharmaceuticals Limited
Industry
Eligibility
12 Years to 45 Years · Male only
Enrollment
72 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2015
U.S. locations
17
States / cities
Sacramento, California • Denver, Colorado • Washington D.C., District of Columbia + 14 more
Source: ClinicalTrials.gov public record
Updated Feb 5, 2018 · Synced Oct 21, 2026, 10:46 PM EDT
Completed Phase 4 Interventional

TESTO: Testosterone Effects on Short-Term Outcomes in Infants With XXY

NCT03325647
View directory record Official record
Conditions
Klinefelter Syndrome
Interventions
Testosterone Cypionate 200 Milligram/Milliliter Injectable Solution, Placebo injectable saline
Drug
Lead sponsor
University of Colorado, Denver
Other
Eligibility
31 Days to 90 Days · Male only
Enrollment
72 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2021
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated May 6, 2022 · Synced Oct 21, 2026, 10:46 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Gonadal Tissue Cryopreservation for Fertility Preservation in Children With a Disorder of Sex Development

NCT06692049
View directory record Official record
Conditions
DSD, 46,XY, DSD, Ovotesticular, DSD, Sex Chromosome, Disorders of Sex Development, Disorder of Sex Development, 46,XY, Disorder of Sex Development, 46,Xy, Cbx2-Related
Interventions
Gonadectomy
Procedure
Lead sponsor
Erin Rowell
Other
Eligibility
Up to 30 Years
Enrollment
250 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2035
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Sep 3, 2026 · Synced Oct 21, 2026, 10:46 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Effect of Video Education on Patients' Knowledge and Attitudes of Privacy in Prenatal Genetics

NCT04420858
View directory record Official record
Conditions
Aneuploidy, Genetic Disease, Pregnancy Related
Interventions
Enhanced (experimental) education, Standard (control) education.
Behavioral
Lead sponsor
Women and Infants Hospital of Rhode Island
Other
Eligibility
18 Years and older · Female only
Enrollment
162 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020
U.S. locations
1
States / cities
Providence, Rhode Island
Source: ClinicalTrials.gov public record
Updated Nov 4, 2020 · Synced Oct 21, 2026, 10:46 PM EDT
Terminated No phase listed Observational Accepts healthy volunteers

Brain Study of Patients With Frontal Lobe Dementia and Parkinsonian Disorders

NCT00001178
View directory record Official record
Conditions
Alzheimer's Disease, Dementia, Down's Syndrome
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
18 Years and older
Enrollment
597 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
1981 – 2012
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 12, 2019 · Synced Oct 21, 2026, 10:46 PM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Pregnancy and Developmental Outcomes After Transfer of Reportedly Aneuploid or Mosaic Embryos

NCT04109846
View directory record Official record
Conditions
Aneuploidy, Mosaicism, Pregnancy Outcome
Interventions
Non-euploid embryo transfer, Euploid Transfer
Other
Lead sponsor
Stanford University
Other
Eligibility
18 Years to 55 Years · Female only
Enrollment
300 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2039
U.S. locations
1
States / cities
Sunnyvale, California
Source: ClinicalTrials.gov public record
Updated Apr 24, 2026 · Synced Oct 21, 2026, 10:46 PM EDT
Completed Phase 4 Interventional Results available

Buspirone Treatment of Anxiety in Williams Syndrome

NCT04807517
View directory record Official record
Conditions
Williams Syndrome, Anxiety
Interventions
Buspirone
Drug
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
5 Years to 65 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
1
States / cities
Lexington, Massachusetts
Source: ClinicalTrials.gov public record
Updated Dec 3, 2024 · Synced Oct 21, 2026, 10:46 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 21, 2026, 10:46 PM EDT
Recruiting Not applicable Interventional

A VIRTUAL Three-month Intervention Study of the Effects of a Smartphone Application (HippoCamera) on Memory in Teens and Young Adults With Down Syndrome

NCT07008989
View directory record Official record
Conditions
Memory Replay, HippoCamera
Interventions
Memory replay
Behavioral
Lead sponsor
Boston College
Other
Eligibility
15 Years to 35 Years
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
1
States / cities
Chestnut Hill, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jul 14, 2026 · Synced Oct 21, 2026, 10:46 PM EDT
Completed Phase 2 Interventional

Hormone Replacement Therapy to Treat Turner Syndrome

NCT00013546
View directory record Official record
Conditions
Osteoporosis, Turner's Syndrome
Interventions
TMTDS
Drug
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
Female only
Enrollment
92 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2001 – 2002
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 4, 2008 · Synced Oct 21, 2026, 10:46 PM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Genetics and Psychopathology in the 22q11 Deletion Syndrome

NCT00161109
View directory record Official record
Conditions
Chromosome 22q11.2 Deletion Syndrome
Interventions
Not listed
Lead sponsor
UMC Utrecht
Other
Eligibility
8 Years to 20 Years
Enrollment
175 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2002 – 2012
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Oct 13, 2006 · Synced Oct 21, 2026, 10:46 PM EDT
Completed Phase 3 Interventional

Efficacy and Safety Study of STX209 (Arbaclofen) for Social Withdrawal in Adolescents and Adults With Fragile X Syndrome

NCT01282268
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
arbaclofen, placebo
Drug
Lead sponsor
Seaside Therapeutics, Inc.
Industry
Eligibility
12 Years to 50 Years
Enrollment
125 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2011
U.S. locations
24
States / cities
Phoenix, Arizona • Long Beach, California • Sacramento, California + 20 more
Source: ClinicalTrials.gov public record
Updated Jul 31, 2013 · Synced Oct 21, 2026, 10:46 PM EDT
Completed No phase listed Observational

Non-Invasive Screening for Fetal Aneuploidy

NCT00847990
View directory record Official record
Conditions
Down Syndrome, Edwards Syndrome
Interventions
Maternal blood screening test for fetal aneuploidy
Other
Lead sponsor
Sequenom, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
5,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2011
U.S. locations
25
States / cities
Mesa, Arizona • Phoenix, Arizona • Tucson, Arizona + 18 more
Source: ClinicalTrials.gov public record
Updated Sep 5, 2011 · Synced Oct 21, 2026, 10:46 PM EDT
Terminated No phase listed Observational Accepts healthy volunteers

Rocky Mountain Alzheimer's Disease Center Longitudinal Biomarker and Clinical Phenotyping Study

NCT02612376
View directory record Official record
Conditions
Alzheimer Disease, Down Syndrome, Mild Cognitive Impairment
Interventions
Not listed
Lead sponsor
University of Colorado, Denver
Other
Eligibility
18 Years and older
Enrollment
800 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2025
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Jun 3, 2025 · Synced Oct 21, 2026, 10:46 PM EDT
Recruiting Phase 1Phase 2 Interventional

A Study to Assess the Effects of ACI-24.060 in Alzheimer's Disease and in Down Syndrome (ABATE Study)

NCT05462106
View directory record Official record
Conditions
Amyloid Plaque, Beta-Amyloid, DSAD, Prodromal Alzheimer's Disease, Alzheimer's Disease
Interventions
Placebo (Study Part 1a), ACI-24.060 at Dose A in Study Part 1a, ACI-24.060 at Dose B in Study Part 1a, ACI-24.060 at Dose C in Study Part 1a, ACI-24.060 with an additional adjuvant at Dose D in Study Part 1b, Placebo (Study Part 2), ACI-24.060 at Dose A in Study Part 2, ACI-24.060 at Dose B in Study Part 2, ACI-24.060 at Dose C in Study Part 2, Placebo (Study Part 1b), ACI-24.060 with an additional adjuvant at Dose E in Study Part 1b
Biological
Lead sponsor
AC Immune SA
Industry
Eligibility
35 Years to 85 Years
Enrollment
304 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2029
U.S. locations
13
States / cities
Phoenix, Arizona • Lady Lake, Florida • Orlando, Florida + 9 more
Source: ClinicalTrials.gov public record
Updated Jul 10, 2026 · Synced Oct 21, 2026, 10:46 PM EDT
Completed Phase 1 Interventional

Thymus Transplantation With Immunosuppression

NCT00579709
View directory record Official record
Conditions
DiGeorge Syndrome, DiGeorge Anomaly, Complete DiGeorge Anomaly, Complete DiGeorge Syndrome
Interventions
Thymus Tissue for Transplantation
Biological
Lead sponsor
Sumitomo Pharma Switzerland GmbH
Industry
Eligibility
Not listed
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2002 – 2019
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Apr 4, 2022 · Synced Oct 21, 2026, 10:46 PM EDT
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 21, 2026, 10:46 PM EDT
Terminated Phase 3 Interventional Results available

Evaluating The Efficacy And Safety Of Donepezil Hydrochloride (Aricept) In The Treatment Of The Cognitive Dysfunction Exhibited By Children With Down Syndrome, Aged 11 To 17

NCT00754052
View directory record Official record
Conditions
Down Syndrome, Cognitive Dysfunction
Interventions
Aricept (donepezil hydrochloride), Placebo
Drug
Lead sponsor
Eisai Inc.
Industry
Eligibility
11 Years to 17 Years
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008
U.S. locations
2
States / cities
San Antonio, Texas • Herndon, Virginia
Source: ClinicalTrials.gov public record
Updated Apr 23, 2018 · Synced Oct 21, 2026, 10:46 PM EDT