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ClinicalTrials.gov public records Last synced Oct 20, 2026, 4:53 PM EDT

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Showing 49–72 of 559 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Chromosomal Abnormalities Clear all
Completed Phase 2 Interventional Accepts healthy volunteers Results available

Phase II Study of Florbetaben (BAY94-9172) PET Imaging for Detection/Exclusion of Cerebral β-amyloid.

NCT00928304
View directory record Official record
Conditions
Down Syndrome, Amyloid Beta-protein
Interventions
Florbetaben (BAY94-9172)
Drug
Lead sponsor
Lantheus Biosciences Ltd.
Industry
Eligibility
21 Years and older
Enrollment
109 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2009 – 2011
U.S. locations
2
States / cities
Sun City, Arizona • New Haven, Connecticut
Source: ClinicalTrials.gov public record
Updated Mar 5, 2014 · Synced Oct 20, 2026, 4:53 PM EDT
Completed Not applicable Interventional Results available

Obstructive Sleep Apnea and Neurocognitive and Cardiovascular Function in Children With Down Syndrome

NCT01808508
View directory record Official record
Conditions
Down Syndrome, Obstructive Sleep Apnea Syndrome
Interventions
Continuous positive airway pressure, Sham or placebo continuous positive airway pressure
Device
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
8 Years to 20 Years
Enrollment
27 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2014
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Feb 8, 2016 · Synced Oct 20, 2026, 4:53 PM EDT
Completed No phase listed Observational

A Study of Patients With AIDS Syndrome

NCT00001120
View directory record Official record
Conditions
Sarcoma, Kaposi, Lymphoma, Non-Hodgkin, HIV Infections, Lymphoma, AIDS-Related
Interventions
Not listed
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
18 Years and older
Enrollment
5,000 participants
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
23
States / cities
Menlo Park, California • San Francisco, California • San Rafael, California + 15 more
Source: ClinicalTrials.gov public record
Updated Sep 12, 2008 · Synced Oct 20, 2026, 4:53 PM EDT
Recruiting Phase 3 Interventional

CHAMPION: A Study to Evaluate the Efficacy and Safety of Obudanersen (ION582) in Children and Adults With Angelman Syndrome (AS)

NCT07782827
View directory record Official record
Conditions
Angelman Syndrome
Interventions
obudanersen
Drug
Lead sponsor
Ionis Pharmaceuticals, Inc.
Industry
Eligibility
2 Years to 50 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2031
U.S. locations
1
States / cities
Carrboro, North Carolina
Source: ClinicalTrials.gov public record
Updated Oct 20, 2026 · Synced Oct 20, 2026, 4:53 PM EDT
Withdrawn Phase 1 Interventional Accepts healthy volunteers

Novel Clinical Target in Fragile X Syndrome

NCT04314856
View directory record Official record
Conditions
Fragile X Syndrome (FXS)
Interventions
18F-FTC-146
Drug
Lead sponsor
Guido A. Davidzon, MD, SM
Other
Eligibility
18 Years to 65 Years
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2022
U.S. locations
1
States / cities
Stanford, California
Source: ClinicalTrials.gov public record
Updated Nov 15, 2022 · Synced Oct 20, 2026, 4:53 PM EDT
Recruiting Phase 3 Interventional

BEACON - Phase III Clinical Study of Rugonersen in Angelman Syndrome.

NCT07605429
View directory record Official record
Conditions
Angelman Syndrome
Interventions
rugonersen, Sham procedure
Drug · Procedure
Lead sponsor
OHB Pediatrics Ltd.
Industry
Eligibility
1 Year to 50 Years
Enrollment
165 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2031
U.S. locations
5
States / cities
San Diego, California • Miami, Florida • Chicago, Illinois + 2 more
Source: ClinicalTrials.gov public record
Updated Oct 20, 2026 · Synced Oct 20, 2026, 4:53 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Dry Eye in Women With Turner Syndrome and Women With Premature Ovarian Failure

NCT00471731
View directory record Official record
Conditions
Turner Syndrome, Ovarian Failure, Premature, Sex Chromosome Aberrations, Menopause, Perimenopause
Interventions
Not listed
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
18 Years and older · Female only
Enrollment
72 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2007 – 2014
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Feb 14, 2018 · Synced Oct 20, 2026, 4:53 PM EDT
Completed Phase 1 Interventional

Cord Blood Fucosylation to Enhance Homing and Engraftment in Patients With Hematologic Malignancies

NCT01471067
View directory record Official record
Conditions
Blood And Marrow Transplantation, Leukemia, Lymphoma, Transplantation Infection, Transplantation, Bone Marrow
Interventions
Melphalan, Fludarabine, Mycophenolate mofetil, Tacrolimus, Cord Blood Infusion, Rituximab, ATG, Busulfan, Clofarabine, Total Body Irradiation (TBI)
Drug · Procedure · Radiation
Lead sponsor
M.D. Anderson Cancer Center
Other
Eligibility
1 Year to 80 Years
Enrollment
33 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2017
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Apr 28, 2017 · Synced Oct 20, 2026, 4:53 PM EDT
Completed Phase 2 Interventional Accepts healthy volunteers Results available

Down Syndrome Memantine Follow-up Study

NCT02304302
View directory record Official record
Conditions
Down Syndrome, Intellectual Disability
Interventions
Memantine, Placebo
Drug
Lead sponsor
University Hospitals Cleveland Medical Center
Other
Eligibility
15 Years to 32 Years
Enrollment
160 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2020
U.S. locations
1
States / cities
Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Jun 27, 2023 · Synced Oct 20, 2026, 4:53 PM EDT
Terminated No phase listed Observational

Blood Stem Cell Transplant in Treating Patients With Hematologic Cancer

NCT00008216
View directory record Official record
Conditions
Adult Langerhans Cell Histiocytosis, Childhood Langerhans Cell Histiocytosis, Leukemia, Lymphoma, Multiple Myeloma and Plasma Cell Neoplasm, Myelodysplastic Syndromes, Myelodysplastic/Myeloproliferative Neoplasms
Interventions
Peripheral Blood Stem Cell Transplantation
Procedure
Lead sponsor
Columbia University
Other
Eligibility
18 Years to 65 Years
Enrollment
48 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1996 – 2009
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jun 6, 2014 · Synced Oct 20, 2026, 4:53 PM EDT
Completed Phase 3 Interventional Results available

A Study of Diazoxide Choline in Patients With Prader-Willi Syndrome

NCT03440814
View directory record Official record
Conditions
Prader-Willi Syndrome
Interventions
DCCR, Placebo for DCCR
Drug
Lead sponsor
Soleno Therapeutics, Inc.
Industry
Eligibility
4 Years and older
Enrollment
127 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
20
States / cities
Orange, California • Palo Alto, California • San Diego, California + 17 more
Source: ClinicalTrials.gov public record
Updated Sep 21, 2023 · Synced Oct 20, 2026, 4:53 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Natural History of Dysregulation and Aging of the Immune System in People With Trisomy 21 With and Without Thymectomy

NCT07416201
View directory record Official record
Conditions
Down Syndrome
Interventions
Not listed
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
1 Year to 120 Years
Enrollment
700 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2026 – 2040
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 19, 2026 · Synced Oct 20, 2026, 4:53 PM EDT
Completed No phase listed Observational

Hypoglycemia in Prader-Willi Syndrome

NCT01897363
View directory record Official record
Conditions
Prader Willi Syndrome, Hypoglycemia
Interventions
Infants with Prader-Willi Syndrome
Other
Lead sponsor
University of Florida
Other
Eligibility
2 Months to 12 Months
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2014
U.S. locations
1
States / cities
Gainesville, Florida
Source: ClinicalTrials.gov public record
Updated Sep 25, 2014 · Synced Oct 20, 2026, 4:53 PM EDT
Completed Phase 1Phase 2 Interventional

Behavioral Treatment of Obsessive-Compulsive Symptoms in Youth With Prader-Willi Syndrome: A Pilot Project

NCT00742664
View directory record Official record
Conditions
Prader Willi Syndrome, Obsessive-compulsive Disorder
Interventions
Cognitive-behavioral therapy, Wait-list control
Behavioral
Lead sponsor
University of South Florida
Other
Eligibility
6 Years to 17 Years
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2011
U.S. locations
1
States / cities
St. Petersburg, Florida
Source: ClinicalTrials.gov public record
Updated Aug 8, 2011 · Synced Oct 20, 2026, 4:53 PM EDT
Not listed Phase 1Phase 2 Interventional

Metformin in Patients With Fragile X

NCT04141163
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
Metformin, Placebo oral tablet
Drug
Lead sponsor
Rowan University
Other
Eligibility
18 Years to 50 Years · Male only
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2021
U.S. locations
1
States / cities
Stratford, New Jersey
Source: ClinicalTrials.gov public record
Updated Oct 31, 2019 · Synced Oct 20, 2026, 4:53 PM EDT
Completed Phase 2 Interventional

Oxandrolone Compared With a Placebo on Growth Rate in Girls With Growth Hormone-Treated Turner's Syndrome

NCT00004275
View directory record Official record
Conditions
Turner's Syndrome
Interventions
growth hormone, oxandrolone
Drug
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
10 Years to 14 Years · Female only
Enrollment
80 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Sep 10, 2008 · Synced Oct 20, 2026, 4:53 PM 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 20, 2026, 4:53 PM EDT
Terminated No phase listed Observational

Cell-free DNA Analysis of Chromosome Anomalies in Early Pregnancy Loss

NCT04935138
View directory record Official record
Conditions
Early Pregnancy Loss
Interventions
cfDNA analysis
Genetic
Lead sponsor
Quest Diagnostics-Nichols Insitute
Industry
Eligibility
18 Years to 50 Years · Female only
Enrollment
78 participants
Timeline
2021 – 2022
U.S. locations
1
States / cities
San Juan Capistrano, California
Source: ClinicalTrials.gov public record
Updated Dec 1, 2023 · Synced Oct 20, 2026, 4:53 PM EDT
Completed Phase 1 Interventional

An Open-Label Trial of Donepezil in Fragile X Syndrome

NCT00220584
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
donepezil
Drug
Lead sponsor
Stanford University
Other
Eligibility
14 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2009
U.S. locations
1
States / cities
Stanford, California
Source: ClinicalTrials.gov public record
Updated Dec 13, 2012 · Synced Oct 20, 2026, 4:53 PM EDT
Completed No phase listed Observational

Comparison of Aneuploidy Risk Evaluations

NCT01663350
View directory record Official record
Conditions
Pregnancy, Down Syndrome, Edwards Syndrome, Patau Syndrome, Turners Syndrome
Interventions
Not listed
Lead sponsor
Verinata Health, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
3,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2012
U.S. locations
26
States / cities
San Diego, California • Atlanta, Georgia • Chicago, Illinois + 22 more
Source: ClinicalTrials.gov public record
Updated Jul 16, 2013 · Synced Oct 20, 2026, 4:53 PM EDT
Completed No phase listed Observational

The Clinical Study of Sex Chromosome Variants

NCT01661010
View directory record Official record
Conditions
Male Factor Infertility, Female Factor Infertility
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years and older
Enrollment
112 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2012
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 8, 2026 · Synced Oct 20, 2026, 4:53 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 6 To 10

NCT00754013
View directory record Official record
Conditions
Down Syndrome, Cognitive Dysfunction
Interventions
Aricept (Donepezil hydrochloride), Placebo
Drug
Lead sponsor
Eisai Inc.
Industry
Eligibility
6 Years to 10 Years
Enrollment
9 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 Jan 28, 2020 · Synced Oct 20, 2026, 4:53 PM 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 20, 2026, 4:53 PM EDT
Completed Phase 1 Interventional

A Pharmacokinetic and Safety Study of CSTI-500 in Subjects With Prader-Willi Syndrome

NCT05504395
View directory record Official record
Conditions
Prader-Willi Syndrome
Interventions
CSTI-500
Drug
Lead sponsor
ConSynance Therapeutics
Industry
Eligibility
13 Years to 50 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2023
U.S. locations
1
States / cities
Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Aug 9, 2023 · Synced Oct 20, 2026, 4:53 PM EDT