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ClinicalTrials.gov public records Last synced Oct 6, 2026, 9:59 PM EDT

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Showing 97–120 of 530 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Chromosome Abnormality Clear all
Recruiting No phase listed Observational

Intensive Multimodal Neurorehabilitation Targeting Neuroplasticity in Pediatric Neurodevelopmental and Chromosomal Disorders

NCT07493096
View directory record Official record
Conditions
Neurodevelopmental Disorders, Neurodevelopmental Disorders (NDD), Neurodevelopmental Disorders and Developmental Abnormalities, Developmental Delay (Disorder), Cerebral Palsy (CP), Cerebral Palsy Hemiparetic Cerebral Palsy Spasticity Gait Disorders, Neurologic Postural Balance Impairment, Cerebral Palsy Infantile, Cerebral Palsy Spastic Hemiplegic, Cerebral Palsy, Dyskinetic, Autism Spectrum Disorder, Autism Spectrum Disorder (ASD, Hypoxic Ischemic Encephalopathy, Hypoxic Ischemic Encephalopathy (HIE), Traumatic Brain Injury (TBI), Sensory Processing Disorder, Chromosomal Abnormalities, Genetic Disorders, Down Syndrome (Trisomy 21), Fragile X Syndrome (FXS), RETT Syndrome With Proven MECP2 Mutation, Williams Syndrome, 22q11.2 Deletion Syndrome, Sensorimotor Integration
Interventions
Not listed
Lead sponsor
Healing Hope International
Other
Eligibility
4 Years to 12 Years
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2036
U.S. locations
1
States / cities
The Woodlands, Texas
Source: ClinicalTrials.gov public record
Updated Mar 25, 2026 · Synced Oct 6, 2026, 9:59 PM EDT
Not listed No phase listed Observational

Pulmonary Health in Children With Down Syndrome

NCT04398862
View directory record Official record
Conditions
Down Syndrome, Dysphagia, Oropharyngeal
Interventions
Not listed
Lead sponsor
University of Colorado, Denver
Other
Eligibility
3 Years to 18 Years
Enrollment
75 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2024
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Jan 26, 2024 · Synced Oct 6, 2026, 9:59 PM EDT
Recruiting No phase listed Observational

A Study to Learn More About the Health of Persons With Down Syndrome After Treatment for Acute Leukemia

NCT05702645
View directory record Official record
Conditions
B Acute Lymphoblastic Leukemia Associated With Down Syndrome, Down Syndrome, Myeloid Leukemia Associated With Down Syndrome
Interventions
Biospecimen Collection, Clinical Evaluation, Neurocognitive Assessment, Questionnaire Administration, Survey Administration
Procedure · Other
Lead sponsor
Children's Oncology Group
Network
Eligibility
6 Years to 39 Years
Enrollment
330 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2029
U.S. locations
72
States / cities
Birmingham, Alabama • Phoenix, Arizona • Madera, California + 60 more
Source: ClinicalTrials.gov public record
Updated Aug 25, 2026 · Synced Oct 6, 2026, 9:59 PM EDT
Recruiting No phase listed Observational

The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy

NCT03396562
View directory record Official record
Conditions
Klinefelter Syndrome, Trisomy X, XYY Syndrome, XXXY and XXXXY Syndrome, Xxyy Syndrome, Xyyy Syndrome, Xxxx Syndrome, Xxxxx Syndrome, Xxxyy Syndrome, Xxyyy Syndrome, Xyyyy Syndrome, Male With Sex Chromosome Mosaicism
Interventions
Assessments of Development and Growth
Other
Lead sponsor
University of Colorado, Denver
Other
Eligibility
6 Weeks to 13 Months
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2028
U.S. locations
2
States / cities
Aurora, Colorado • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated May 9, 2024 · Synced Oct 6, 2026, 9:59 PM EDT
Completed No phase listed Observational

WS-SAVE Study (Williams Syndrome Skin and Vessel Elasticity Study)

NCT02692846
View directory record Official record
Conditions
Williams Syndrome, Cardiovascular Disease, Multisystem Developmental Disorder, Elastin Gene Deletion, Hypertension
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
1 Year to 70 Years
Enrollment
43 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 13, 2026 · Synced Oct 6, 2026, 9:59 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 6, 2026, 9:59 PM EDT
Terminated Not applicable Interventional Accepts healthy volunteers

Training Balance Among People With Neurodevelopmental Disabilities

NCT04293120
View directory record Official record
Conditions
Posture, Balance, Cerebral Palsy, Autism, Down Syndrome
Interventions
Training with weighted ball
Other
Lead sponsor
University of Hartford
Other
Eligibility
8 Years to 25 Years
Enrollment
3 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020
U.S. locations
1
States / cities
West Hartford, Connecticut
Source: ClinicalTrials.gov public record
Updated Jun 1, 2021 · Synced Oct 6, 2026, 9:59 PM EDT
Completed Phase 2 Interventional Results available

Setmelanotide Phase 2 Treatment Trial in Participants With Rare Genetic Disorders of Obesity

NCT03013543
View directory record Official record
Conditions
Genetic Obesity, Obesity, Obesity Due to Melanocortin 4 Receptor Deficiency
Interventions
Setmelanotide
Drug
Lead sponsor
Rhythm Pharmaceuticals, Inc.
Industry
Eligibility
6 Years and older
Enrollment
213 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2022
U.S. locations
43
States / cities
Birmingham, Alabama • Chandler, Arizona • Mesa, Arizona + 37 more
Source: ClinicalTrials.gov public record
Updated Aug 18, 2023 · Synced Oct 6, 2026, 9:59 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 6, 2026, 9:59 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 2, 2026 · Synced Oct 6, 2026, 9:59 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 6, 2026, 9:59 PM EDT
Completed No phase listed Observational

Natural History Study of Smith-Magenis Syndrome

NCT00013559
View directory record Official record
Conditions
Smith-Magenis Syndrome (SMS)
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month to 115 Years
Enrollment
593 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2001
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 9, 2026 · Synced Oct 6, 2026, 9:59 PM EDT
Not listed No phase listed Observational

Inspiring New Science In Guiding Healthcare in Turner Syndrome Registry

NCT05052606
View directory record Official record
Conditions
Turner Syndrome
Interventions
No intervention
Other
Lead sponsor
University of Colorado, Denver
Other
Eligibility
Female only
Enrollment
5,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2025
U.S. locations
10
States / cities
Aurora, Colorado • Washington D.C., District of Columbia • Glenview, Illinois + 7 more
Source: ClinicalTrials.gov public record
Updated Oct 1, 2024 · Synced Oct 6, 2026, 9:59 PM EDT
Completed Not applicable Interventional Results available

Promoting Health Through Parent Empowerment and the Activation of Routines (PrO-PEAR)

NCT05020366
View directory record Official record
Conditions
Down Syndrome
Interventions
Promoting Health through Parent Empowerment and the Activation of Routines, Enhanced Usual Care
Behavioral
Lead sponsor
University of Pittsburgh
Other
Eligibility
12 Months and older
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jul 15, 2024 · Synced Oct 6, 2026, 9:59 PM EDT
Recruiting Not applicable Interventional

Brain Outcomes With Lifestyle Change in Down Syndrome

NCT05985486
View directory record Official record
Conditions
Down Syndrome, Alzheimer Disease, Obesity
Interventions
Diet, Health Education
Behavioral
Lead sponsor
University of Kansas Medical Center
Other
Eligibility
18 Years to 64 Years
Enrollment
81 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2027
U.S. locations
1
States / cities
Kansas City, Kansas
Source: ClinicalTrials.gov public record
Updated Mar 11, 2026 · Synced Oct 6, 2026, 9:59 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 6, 2026, 9:59 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Development of a Newborn Screening Assay for Angelman Syndrome and Prader-Willi Syndrome

NCT05783791
View directory record Official record
Conditions
Angelman Syndrome, Prader-Willi Syndrome
Interventions
Newborn Screening Assay
Diagnostic Test
Lead sponsor
University of Wisconsin, Madison
Other
Eligibility
Not listed
Enrollment
11 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023
U.S. locations
1
States / cities
Madison, Wisconsin
Source: ClinicalTrials.gov public record
Updated Sep 6, 2023 · Synced Oct 6, 2026, 9:59 PM EDT
Completed Phase 3 Interventional

Efficacy and Safety Study of STX209 (Arbaclofen) for the Treatment of Social Withdrawal in Children With Fragile X Syndrome

NCT01325220
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
arbaclofen, Placebo
Drug
Lead sponsor
Seaside Therapeutics, Inc.
Industry
Eligibility
5 Years to 11 Years
Enrollment
172 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2011
U.S. locations
28
States / cities
Phoenix, Arizona • Long Beach, California • Sacramento, California + 24 more
Source: ClinicalTrials.gov public record
Updated Jul 31, 2013 · Synced Oct 6, 2026, 9:59 PM EDT
Not yet recruiting Phase 2 Interventional

Pre-pubertal Low Dose Transdermal Estradiol in Turner Syndrome

NCT07784582
View directory record Official record
Conditions
Turner Syndrome, Primary Ovarian Insufficiency
Interventions
Estradiol transdermal patch 0.025mg/24 hours- 1/8th fractionated patch
Drug
Lead sponsor
Children's National Research Institute
Other
Eligibility
8 Years to 12 Years · Female only
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2027
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Source: ClinicalTrials.gov public record
Updated Aug 25, 2026 · Synced Oct 6, 2026, 9:59 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 6, 2026, 9:59 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Multiple Gestation Study

NCT02278536
View directory record Official record
Conditions
Trisomy 13, Trisomy 18, Trisomy 21, Sex Chromosome Abnormalities
Interventions
Not listed
Lead sponsor
Natera, Inc.
Industry
Eligibility
18 Years and older
Enrollment
354 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2019
U.S. locations
6
States / cities
San Carlos, California • San Diego, California • New York, New York + 2 more
Source: ClinicalTrials.gov public record
Updated Aug 26, 2019 · Synced Oct 6, 2026, 9:59 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

10-Week Physical Activity Program for Mothers of Children With Developmental Disabilities

NCT07182071
View directory record Official record
Conditions
Caregiver Burden
Interventions
Physical Activity Program, Waitlist for Physical Activity Program
Behavioral
Lead sponsor
University of Wisconsin, Madison
Other
Eligibility
25 Years to 50 Years · Female only
Enrollment
19 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2026
U.S. locations
1
States / cities
Madison, Wisconsin
Source: ClinicalTrials.gov public record
Updated Jun 5, 2026 · Synced Oct 6, 2026, 9:59 PM EDT
Completed No phase listed Observational

Study of the Experiences and Needs of Parents Continuing a Pregnancy Following a Prenatal Diagnosis of Holopresencephaly

NCT00005016
View directory record Official record
Conditions
Holoprosencephaly
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
Not listed
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2001
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 4, 2008 · Synced Oct 6, 2026, 9:59 PM EDT
Active, not recruiting Phase 3 Interventional Results available

Response-Based Chemotherapy in Treating Newly Diagnosed Acute Myeloid Leukemia or Myelodysplastic Syndrome in Younger Patients With Down Syndrome

NCT02521493
View directory record Official record
Conditions
Acute Myeloid Leukemia, Down Syndrome, Myelodysplastic Syndrome, Myeloid Leukemia Associated With Down Syndrome, Myeloproliferative Neoplasm
Interventions
Asparaginase, Asparaginase Erwinia chrysanthemi, Cytarabine, Daunorubicin Hydrochloride, Etoposide, Laboratory Biomarker Analysis, Mitoxantrone Hydrochloride, Thioguanine
Drug · Other
Lead sponsor
Children's Oncology Group
Network
Eligibility
91 Days to 3 Years
Enrollment
280 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2027
U.S. locations
169
States / cities
Birmingham, Alabama • Anchorage, Alaska • Mesa, Arizona + 131 more
Source: ClinicalTrials.gov public record
Updated Aug 19, 2026 · Synced Oct 6, 2026, 9:59 PM EDT