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ClinicalTrials.gov public records Last synced Oct 21, 2026, 4:45 PM EDT

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Showing 265–288 of 559 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Chromosomal Abnormalities Clear all
Terminated Phase 2 Interventional Results available

Metyrosine (Demser®) for the Treatment of Psychotic Disorders in Patients With Velocardiofacial Syndrome

NCT01127503
View directory record Official record
Conditions
Velo-cardio-facial Syndrome, Psychosis
Interventions
Metyrosine, Placebo
Drug
Lead sponsor
Bausch Health Americas, Inc.
Industry
Eligibility
16 Years to 65 Years
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2011
U.S. locations
1
States / cities
Syracuse, New York
Source: ClinicalTrials.gov public record
Updated Nov 22, 2019 · Synced Oct 21, 2026, 4:45 PM EDT
Completed No phase listed Observational

VAlidation of a Lower Cost aneUploidy scrEen

NCT03087357
View directory record Official record
Conditions
Down Syndrome, Trisomy 18, Trisomy 13
Interventions
SmartNIPT
Other
Lead sponsor
Women and Infants Hospital of Rhode Island
Other
Eligibility
18 Years and older · Female only
Enrollment
2,443 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2020
U.S. locations
13
States / cities
Los Angeles, California • Aurora, Colorado • Bridgeport, Connecticut + 9 more
Source: ClinicalTrials.gov public record
Updated Sep 22, 2022 · Synced Oct 21, 2026, 4:45 PM EDT
Completed No phase listed Observational

Clinical Evaluation of the SEQureDx Trisomy Test in Low Risk Pregnancies

NCT01597063
View directory record Official record
Conditions
Aneuploidy, Down Syndrome, Noninvasive Prenatal Screening
Interventions
SEQureDx Trisomy Test
Device
Lead sponsor
Sequenom, Inc.
Industry
Eligibility
18 Years to 34 Years · Female only
Enrollment
3,333 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2015
U.S. locations
27
States / cities
Mobile, Alabama • Chandler, Arizona • Phoenix, Arizona + 22 more
Source: ClinicalTrials.gov public record
Updated Apr 20, 2016 · Synced Oct 21, 2026, 4:45 PM EDT
Completed No phase listed Observational

Noninvasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker

NCT00971334
View directory record Official record
Conditions
Pregnancy, Aneuploidy, Down Syndrome, Edwards Syndrome
Interventions
Not listed
Lead sponsor
Sequenom, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
2,502 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2011
U.S. locations
30
States / cities
Mobile, Alabama • La Mesa, California • San Diego, California + 21 more
Source: ClinicalTrials.gov public record
Updated Feb 17, 2012 · Synced Oct 21, 2026, 4:45 PM EDT
Completed Not applicable Interventional

Positive Airway Pressure (PAP) for Children With Down Syndrome (DS) and Obstructive Sleep Apnea Syndrome (OSAS)

NCT04132999
View directory record Official record
Conditions
Down Syndrome, Obstructive Sleep Apnea
Interventions
Family-informed intervention, Standard Clinical Care
Behavioral
Lead sponsor
University of Miami
Other
Eligibility
6 Years to 18 Years
Enrollment
27 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2025
U.S. locations
3
States / cities
Miami, Florida • Cincinnati, Ohio • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jun 30, 2026 · Synced Oct 21, 2026, 4:45 PM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Whole Blood Specimen Collection From Pregnant Subjects

NCT02430584
View directory record Official record
Conditions
Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome, Turner Syndrome, DiGeorge Syndrome, Perinatal Infections
Interventions
Observational - no intervention
Other
Lead sponsor
Progenity, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
5,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2021
U.S. locations
1
States / cities
Chattanooga, Tennessee
Source: ClinicalTrials.gov public record
Updated Sep 17, 2020 · Synced Oct 21, 2026, 4:45 PM EDT
Recruiting No phase listed Observational

Collaboration for Down Syndrome Progress (CDP)

NCT07625579
View directory record Official record
Conditions
Down Syndrome, Chromosome Disorders, Intellectual and Developmental Disabilities
Interventions
Not listed
Lead sponsor
RTI International
Other
Eligibility
Not listed
Enrollment
1,400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2029
U.S. locations
15
States / cities
Orange, California • Aurora, Colorado • Miami, Florida + 12 more
Source: ClinicalTrials.gov public record
Updated Jun 4, 2026 · Synced Oct 21, 2026, 4:45 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 21, 2026, 4:45 PM EDT
Completed Phase 1 Interventional

Treatment Strategies for Children With Smith-Magenis Syndrome

NCT00506259
View directory record Official record
Conditions
Developmental Delay Disorders, Chromosome Deletion, Mental Retardation, Sleep Disorders, Circadian Rhythm, Self Injurious Behavior
Interventions
dTR Melatonin (NIH CC PDS), Phototherapy (Bright Light), Melatonin CR
Drug · Device
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
3 Years to 45 Years
Enrollment
23 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2018
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 12, 2019 · Synced Oct 21, 2026, 4:45 PM EDT
Completed No phase listed Observational

Biomarker and DNA Collection in Subjects Participating in Protocol 22003

NCT00892580
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
STX209
Drug
Lead sponsor
Seaside Therapeutics, Inc.
Industry
Eligibility
6 Years to 17 Years
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2009
U.S. locations
8
States / cities
Phoenix, Arizona • Los Angeles, California • New Haven, Connecticut + 5 more
Source: ClinicalTrials.gov public record
Updated Jul 31, 2013 · Synced Oct 21, 2026, 4:45 PM 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 21, 2026, 4:45 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

An Online Health Tool About Down Syndrome: Down Syndrome Clinic to You

NCT04227197
View directory record Official record
Conditions
Down Syndrome
Interventions
Down Syndrome Clinic to You (DSC2U)
Other
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
1 Year and older
Enrollment
281 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2019
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jun 14, 2022 · Synced Oct 21, 2026, 4:45 PM EDT
Completed Phase 2 Interventional

Study to Evaluate Efficacy, Safety, and Tolerability of RGH-706 in Prader-Willi Syndrome

NCT05322096
View directory record Official record
Conditions
Prader-Willi Syndrome
Interventions
RGH-706, Placebo
Drug
Lead sponsor
Gedeon Richter Plc.
Industry
Eligibility
17 Years and older
Enrollment
39 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2024
U.S. locations
6
States / cities
San Diego, California • Chicago, Illinois • Brooklyn, New York + 3 more
Source: ClinicalTrials.gov public record
Updated Jun 3, 2024 · Synced Oct 21, 2026, 4:45 PM EDT
Recruiting Phase 2 Interventional

Modulation of the Immune System in Down Syndrome for Improved Outcomes and Neurodevelopment - 1

NCT07598643
View directory record Official record
Conditions
Down Syndrome
Interventions
Tofacitinib Oral Solution, Placebo
Drug
Lead sponsor
University of Colorado, Denver
Other
Eligibility
6 Years to 22 Years
Enrollment
92 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2030
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Sep 3, 2026 · Synced Oct 21, 2026, 4:45 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Healthy Lifestyles for People With Intellectual Disabilities

NCT00597948
View directory record Official record
Conditions
Mental Retardation, Developmental Disabilities, Intellectual Disabilities
Interventions
Healthy Lifestyles Curriculum
Behavioral
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
18 Years to 65 Years
Enrollment
131 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2007 – 2010
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Feb 27, 2012 · Synced Oct 21, 2026, 4:45 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 21, 2026, 4:45 PM EDT
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 21, 2026, 4:45 PM EDT
Completed No phase listed Observational

Clinical and Genetic Studies on Holoprosencephaly

NCT00088426
View directory record Official record
Conditions
Holoprosencephaly, HPE, Developmental Delay Disorders, Brain Disorders
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month and older
Enrollment
256 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2020
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Apr 20, 2020 · Synced Oct 21, 2026, 4:45 PM EDT
Terminated Phase 3 Interventional

The Hunger Elimination or Reduction Objective (HERO ) Open -Label Extension (OLE) Trial

NCT07197034
View directory record Official record
Conditions
Hyperphagia, Prader-Willi Syndrome, Hyperphagia in Prader-Willi Syndrome
Interventions
ARD-101
Drug
Lead sponsor
Aardvark Therapeutics, Inc.
Industry
Eligibility
13 Years and older
Enrollment
19 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
16
States / cities
Birmingham, Alabama • Orange, California • Palo Alto, California + 13 more
Source: ClinicalTrials.gov public record
Updated Jun 30, 2026 · Synced Oct 21, 2026, 4:45 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 21, 2026, 4:45 PM EDT
Completed Early Phase 1 Interventional Results available

Neurophysiological and Acute Pharmacological Studies in FXS Patients

NCT02998151
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
Acamprosate, Lovastatin, Minocycline, Placebo, Baclofen
Drug
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
15 Years to 55 Years
Enrollment
29 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2020
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Nov 26, 2021 · Synced Oct 21, 2026, 4:45 PM 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 21, 2026, 4:45 PM EDT
Completed No phase listed Observational

Evaluation of Patients With Unresolved Chromosome Abnormalities

NCT00001639
View directory record Official record
Conditions
Abnormalities, Failure to Thrive, Mental Retardation, Microcephaly
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
Not listed
Enrollment
263 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1996 – 2000
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 4, 2008 · Synced Oct 21, 2026, 4:45 PM EDT
Completed Phase 2 Interventional

A Study of RO4917523 in Pediatric Patients With Fragile X Syndrome

NCT01750957
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
Placebo, RO4917523
Drug
Lead sponsor
Hoffmann-La Roche
Industry
Eligibility
5 Years to 13 Years
Enrollment
47 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2014
U.S. locations
20
States / cities
Long Beach, California • Sacramento, California • San Diego, California + 17 more
Source: ClinicalTrials.gov public record
Updated Aug 11, 2016 · Synced Oct 21, 2026, 4:45 PM EDT