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ClinicalTrials.gov public records Last synced Oct 17, 2026, 6:56 AM EDT

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Showing 1–24 of 258 matching trials from the live ClinicalTrials.gov search.
Filters: Sponsor: National Human Genome Research Institute (NHGRI) Clear all
Active, not recruiting No phase listed Observational

VIGOR: Virtual Genome Center for Infant Health

NCT05205356
View directory record Official record
Conditions
Genetics Disease, Genetics/Birth Defects, Genetic Predisposition to Disease
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
0 Days to 99 Years
Enrollment
631 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
10
States / cities
Mobile, Alabama • Miami, Florida • Boston, Massachusetts + 6 more
Source: ClinicalTrials.gov public record
Updated Jul 10, 2026 · Synced Oct 17, 2026, 6:56 AM EDT
Completed No phase listed Observational

Adaptation Among Adolescents and Adults With Klinefelter Syndrome

NCT00896272
View directory record Official record
Conditions
Klinefelter Syndrome
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
14 Years to 80 Years · Male only
Enrollment
302 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2015
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 17, 2019 · Synced Oct 17, 2026, 6:56 AM EDT
Completed No phase listed Observational

Genetic Analysis of Fraser Syndrome and Fryns Syndrome

NCT00032877
View directory record Official record
Conditions
Fraser Syndrome, Fryns Syndrome, Chromosomal Abnormalities, Abnormalities, Multiple
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
Not listed
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2002 – 2003
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 4, 2008 · Synced Oct 17, 2026, 6:56 AM EDT
Completed No phase listed Observational

New Approaches for Empowering Studies of Asthma in Populations of African Descent

NCT03937804
View directory record Official record
Conditions
Asthma
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 115 Years
Enrollment
83 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2021
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 1, 2026 · Synced Oct 17, 2026, 6:56 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Genetic Studies of Inflammatory Bowel Disease

NCT00340444
View directory record Official record
Conditions
Inflammatory Bowel Disease
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
Not listed
Enrollment
10,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2003 – 2007
U.S. locations
5
States / cities
Chicago, Illinois • Baltimore, Maryland • Boston, Massachusetts + 1 more
Source: ClinicalTrials.gov public record
Updated Jul 2, 2017 · Synced Oct 17, 2026, 6:56 AM EDT
Completed No phase listed Observational

Black Family Eating Behaviors Study

NCT02015078
View directory record Official record
Conditions
Cancer, Obesity
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 70 Years
Enrollment
314 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2015
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Jan 16, 2024 · Synced Oct 17, 2026, 6:56 AM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Genetic Study to Determine the Cause of Birth Defects in Newborns in Texas

NCT07102966
View directory record Official record
Conditions
Rare Diseases
Interventions
Rapid whole genome sequencing
Genetic
Lead sponsor
Baylor College of Medicine
Other
Eligibility
1 Day to 90 Days
Enrollment
410 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2029
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Oct 1, 2026 · Synced Oct 17, 2026, 6:56 AM 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 17, 2026, 6:56 AM EDT
Completed Not applicable Interventional Results available

Educational Video for Genetic Testing

NCT05472714
View directory record Official record
Conditions
Genetic Disease, Cancer
Interventions
Educational Video
Other
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
12 Years and older
Enrollment
359 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2025
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jun 16, 2026 · Synced Oct 17, 2026, 6:56 AM EDT
Completed Phase 1 Interventional

Dose Finding Trial of MK-7075 in Children and Adults With Proteus Syndrome

NCT02594215
View directory record Official record
Conditions
Proteus Syndrome
Interventions
MK-7075 (miransertib)
Drug
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
6 Years to 65 Years
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2022
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jun 30, 2022 · Synced Oct 17, 2026, 6:56 AM EDT
Completed No phase listed Observational

The Role of Uncertainty in Coping: The Experience of Parents of Children With Undiagnosed Medical Conditions

NCT01905865
View directory record Official record
Conditions
Undiagnosed Disease
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 115 Years
Enrollment
168 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2013
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 8, 2026 · Synced Oct 17, 2026, 6:56 AM EDT
Completed No phase listed Observational

Microarray Analysis for Human Genetic Disease

NCT00001898
View directory record Official record
Conditions
Breast Neoplasm, Hereditary Neoplastic Syndrome, Melanoma, Ovarian Neoplasm
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
Not listed
Enrollment
1,500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1999 – 2008
U.S. locations
5
States / cities
Tucson, Arizona • Baltimore, Maryland • Ann Arbor, Michigan + 2 more
Source: ClinicalTrials.gov public record
Updated Jul 2, 2017 · Synced Oct 17, 2026, 6:56 AM EDT
Completed No phase listed Observational

Adult Patients With Undiagnosed Conditions and Their Responses to Clinically Uncertain Results From Exome Sequencing

NCT03605004
View directory record Official record
Conditions
Undiagnosed Disease
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 100 Years
Enrollment
26 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
2
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated May 11, 2020 · Synced Oct 17, 2026, 6:56 AM EDT
Recruiting Phase 2 Interventional

An Open-Label Phase 2 Study of N-Acetyl-D-Mannosamine (ManNAc) in Subjects With Podocyte Diseases

NCT06664814
View directory record Official record
Conditions
Focal Segmental Glomerulosclerosis, Minimal Change Disease, Membranous Nephropathy
Interventions
ManNAc
Drug
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 115 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2030
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 16, 2026 · Synced Oct 17, 2026, 6:56 AM EDT
Completed No phase listed Observational

Impact of Lung Cancer Diagnosis on Relatives' Understanding of Genetic Risk and Receptivity to Quit Smoking

NCT00341341
View directory record Official record
Conditions
Lung Cancer
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 55 Years
Enrollment
757 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2010
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 2, 2017 · Synced Oct 17, 2026, 6:56 AM EDT
Completed No phase listed Observational

Informed Consent for Whole Genome Sequencing: Ideals and Norms Referenced by Early Participants

NCT01369953
View directory record Official record
Conditions
Coronary Artery Disease, Proteus Syndrome, Coffin - Sins Syndrome, Familial Isolated Hyperparathyroidism, Dubouitz Syndrome
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 65 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2014
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 26, 2018 · Synced Oct 17, 2026, 6:56 AM EDT
Completed No phase listed Observational

Personalized Medicine Decision-Making in a Virtual Clinical Setting

NCT02108041
View directory record Official record
Conditions
Deep Vein Thrombosis, Blood Clots
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
21 Years and older
Enrollment
196 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Ends 2020
U.S. locations
5
States / cities
Baltimore, Maryland • Boston, Massachusetts • Flint, Michigan + 2 more
Source: ClinicalTrials.gov public record
Updated Oct 13, 2026 · Synced Oct 17, 2026, 6:56 AM EDT
Completed Phase 1Phase 2 Interventional Results available

EPI-743 for Metabolism or Mitochondrial Disorders

NCT01642056
View directory record Official record
Conditions
Mitochondrial Disease, Neurology, Myopathy
Interventions
EPI-743, Placebo
Drug
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
2 Years to 11 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2019
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Apr 14, 2021 · Synced Oct 17, 2026, 6:56 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network

NCT02450851
View directory record Official record
Conditions
Genetic Disease
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month to 100 Years
Enrollment
20,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2099
U.S. locations
33
States / cities
Birmingham, Alabama • Huntsville, Alabama • Los Angeles, California + 21 more
Source: ClinicalTrials.gov public record
Updated Oct 16, 2026 · Synced Oct 17, 2026, 6:56 AM EDT
Not yet recruiting No phase listed Observational Accepts healthy volunteers

Facilitating the Implementation of Population-wide Genomic Screening

NCT07806643
View directory record Official record
Conditions
Population Genomic Screening Implementation Best Practices
Interventions
FOCUS Toolkit Training
Other
Lead sponsor
Wake Forest University Health Sciences
Other
Eligibility
Not listed
Enrollment
8 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2027 – 2028
U.S. locations
7
States / cities
Chapel Hill, North Carolina • Greensboro, North Carolina • Winston-Salem, North Carolina + 3 more
Source: ClinicalTrials.gov public record
Updated Sep 8, 2026 · Synced Oct 17, 2026, 6:56 AM EDT
Recruiting No phase listed Observational

Dietary Intake and Dietary Behaviors in Adults With Sickle Cell Disease

NCT05170412
View directory record Official record
Conditions
Sickle Cell Disease
Interventions
Not listed
Lead sponsor
National Institutes of Health Clinical Center (CC)
NIH
Eligibility
18 Years to 120 Years
Enrollment
80 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 18, 2026 · Synced Oct 17, 2026, 6:56 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Turner Syndrome: Genotype and Phenotype

NCT00006334
View directory record Official record
Conditions
Turner's Syndrome
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
10 Years and older
Enrollment
1,017 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2000 – 2014
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 6, 2017 · Synced Oct 17, 2026, 6:56 AM EDT
Recruiting Phase 1Phase 2 Interventional

A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis

NCT03952637
View directory record Official record
Conditions
Lysosomal Diseases, Gangliosidosis, GM1
Interventions
AAV9-GLB1, Abdominal ultrasound, Rituximab, Sirolimus, Methylprednisolone, Prednisone, Audiology assessment with ABR, Bone density scan (DEXA), Electrocardiogram (EKG), Echocardiogram, Electroencephalogram (EEG) awake and extended overnight, Laboratory tests, Lumbar puncture, Brain MRI/MRS/fMRI, Neurocognitive testing, Neurology exam, PICC or other Central line placement, Skeletal survey, Skin biopsy, Speech and modified barium swallow study, Ophthalmology exam
Biological · Procedure · Drug + 3 more
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
6 Months to 12 Years
Enrollment
54 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2030
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 21, 2026 · Synced Oct 17, 2026, 6:56 AM EDT
Completed Not applicable Interventional Results available

Clinical Utility of Pediatric Whole Exome Sequencing

NCT03525431
View directory record Official record
Conditions
Encephalopathy, Birth Defect, Intellectual Disability, Multiple Congenital Anomaly, Metabolic Disease, Epilepsy, Neuro-Degenerative Disease, Cerebral Palsy, Developmental Delay, Developmental Defect
Interventions
Whole Exome Sequencing
Diagnostic Test
Lead sponsor
University of California, San Francisco
Other
Eligibility
Up to 25 Years
Enrollment
529 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2022
U.S. locations
4
States / cities
Fresno, California • Oakland, California • San Francisco, California
Source: ClinicalTrials.gov public record
Updated Jul 18, 2023 · Synced Oct 17, 2026, 6:56 AM EDT