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ClinicalTrials.gov public records Last synced Oct 18, 2026, 1:16 AM EDT

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Showing 169–192 of 258 matching trials from the live ClinicalTrials.gov search.
Filters: Sponsor: National Human Genome Research Institute (NHGRI) Clear all
Completed Phase 2 Interventional Results available

Study of Sirolimus Therapy for Segmental Overgrowth Caused by Somatic PI3K Activation

NCT02428296
View directory record Official record
Conditions
PIK3CA-Related Overgrowth Spectrum (PROS), Growth Disorder, Genetics
Interventions
Sirolimus
Drug
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
3 Years to 65 Years
Enrollment
39 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2018
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Feb 5, 2020 · Synced Oct 18, 2026, 1:16 AM EDT
Completed No phase listed Observational

Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism

NCT00808106
View directory record Official record
Conditions
Oculocutaneous Albinism
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Year to 80 Years
Enrollment
206 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2019
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jan 6, 2020 · Synced Oct 18, 2026, 1:16 AM EDT
Completed Phase 1Phase 2 Interventional Results available

Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine

NCT00975689
View directory record Official record
Conditions
Niemann-Pick Disease, Type C
Interventions
N-Acetyl Cysteine
Drug
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
12 Months and older
Enrollment
35 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2010
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated May 6, 2013 · Synced Oct 18, 2026, 1:16 AM EDT
Completed Not applicable Interventional Results available

North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2

NCT03548779
View directory record Official record
Conditions
Epilepsy; Seizure, Neuromuscular Diseases, Brain Malformation, Intellectual Disability, Autism Spectrum Disorder, Hypotonia, Inborn Errors of Metabolism, Movement Disorders, Genetic Disease, Development Delay, Chromosome Abnormality, Hearing Loss, Dysmorphic Features, Skeletal Dysplasia, Congenital Abnormality, Microcephaly, Macrocephaly
Interventions
Pre-visit prep, usual care + exome seq
Behavioral · Diagnostic Test
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
0 Years and older
Enrollment
548 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2024
U.S. locations
3
States / cities
Asheville, North Carolina • Chapel Hill, North Carolina • Greenville, North Carolina
Source: ClinicalTrials.gov public record
Updated May 13, 2025 · Synced Oct 18, 2026, 1:16 AM EDT
Completed No phase listed Observational

Genetic Analysis of Gray Platelet Syndrome

NCT00069680
View directory record Official record
Conditions
Genetic Linkage, Myelofibrosis
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Year to 80 Years
Enrollment
123 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2018
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 22, 2018 · Synced Oct 18, 2026, 1:16 AM EDT
Completed No phase listed Observational

Study of Skeletal Disorders and Short Stature

NCT00001754
View directory record Official record
Conditions
Developmental Bone Disease, Dwarfism, Skeletal Dysplasias
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
Not listed
Enrollment
600 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1998 – 2001
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 4, 2008 · Synced Oct 18, 2026, 1:16 AM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Supporting Just-In-Time Consent for Prenatal Screening: The INFORM Study

NCT07557303
View directory record Official record
Conditions
Delivery of Health Care, Genetic Testing, Humans, Pregnancy, Noninvasive Prenatal Testing, Informed Consent, Internet-Based Intervention, Self Efficacy, Pregnant People, Decision Making, Health Education, Patient Education as Topic/Method
Interventions
Mobile-based Educational Intervention
Behavioral
Lead sponsor
Case Western Reserve University
Other
Eligibility
18 Years and older · Female only
Enrollment
1,400 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2026 – 2028
U.S. locations
3
States / cities
San Francisco, California • Jacksonville, Florida • Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Sep 22, 2026 · Synced Oct 18, 2026, 1:16 AM EDT
Completed No phase listed Observational

Use of Virtual Reality to Communicate Concepts of Genomics to the General Public

NCT00316056
View directory record Official record
Conditions
Healthy, Learning, Communication
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 40 Years
Enrollment
346 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2006
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 2, 2017 · Synced Oct 18, 2026, 1:16 AM EDT
Recruiting No phase listed Observational

Study to Understand the Genetic Risk of Developing an Immune Response After Blood Transfusions Among Individuals With Sickle Cell Disease

NCT06944067
View directory record Official record
Conditions
Sickle Cell Disease
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
2 Years to 99 Years
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2030
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 11, 2026 · Synced Oct 18, 2026, 1:16 AM EDT
Recruiting Not applicable Interventional

Cybersickness Prevention and Mitigation in Virtual Reality for Healthy Volunteers

NCT06552754
View directory record Official record
Conditions
Healthy Volunteers, Virtual Reality
Interventions
Motion Reset, Placebo
Behavioral
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 60 Years
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2030
U.S. locations
2
States / cities
Ames, Iowa • Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 10, 2026 · Synced Oct 18, 2026, 1:16 AM EDT
Active, not recruiting No phase listed Observational

Analysis of Specimens From Individuals With Pulmonary Fibrosis

NCT00084305
View directory record Official record
Conditions
Pulmonary Fibrosis, Healthy Volunteers, Hermansky-Pudlak Syndrome (HPS)
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 115 Years
Enrollment
315 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2004
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 16, 2026 · Synced Oct 18, 2026, 1:16 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Cell Studies of Parkinson's Disease

NCT00076505
View directory record Official record
Conditions
Parkinson Disease
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years and older
Enrollment
150 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2004 – 2006
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 2, 2017 · Synced Oct 18, 2026, 1:16 AM EDT
Terminated No phase listed Observational Accepts healthy volunteers

The Role of Family Functioning in Promoting Adaptation in Siblings of Individuals With Duchenne Muscular Dystrophy (DMD)

NCT01386515
View directory record Official record
Conditions
Genetic Disease, Communication
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
13 Years and older
Enrollment
33 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2016
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 12, 2019 · Synced Oct 18, 2026, 1:16 AM EDT
Completed Phase 2 Interventional Results available

Dabrafenib and Trametinib in People With BRAF V600E Mutation Positive Lesions in Erdheim Chester Disease

NCT02281760
View directory record Official record
Conditions
BRAF V600E Mutation
Interventions
Dabrafenib Mesylate, Trametinib Dimethyl Sulfoxide
Drug
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 80 Years
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2018
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 31, 2021 · Synced Oct 18, 2026, 1:16 AM EDT
Terminated No phase listed Observational

Cultural Congruence in International Genetics Research

NCT00767858
View directory record Official record
Conditions
Cultural Diversity
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years and older
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2016
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Apr 5, 2018 · Synced Oct 18, 2026, 1:16 AM EDT
Completed Not applicable Interventional Results available

Genomics, Environmental Factors and Social Determinants of Cardiovascular Disease in African Americans Study (GENE-FORECAST): Sodium Intervention Trial (SIT)

NCT04717336
View directory record Official record
Conditions
Cardiovascular Disease
Interventions
Sodium Chloride, Placebo
Other
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
21 Years to 65 Years
Enrollment
36 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2022
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Apr 27, 2025 · Synced Oct 18, 2026, 1:16 AM EDT
Completed No phase listed Observational

Study of Clinical and Molecular Manifestations of Genetic Disorders

NCT00001466
View directory record Official record
Conditions
Hereditary Diseases
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
Not listed
Enrollment
1,200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1994 – 2000
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 4, 2008 · Synced Oct 18, 2026, 1:16 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

A Pilot Project Exploring the Impact of Whole Genome Sequencing in Healthcare

NCT01736566
View directory record Official record
Conditions
Healthy Adults (Full Study and Extension Phase), Hypertrophic Cardiomyopathy or Dilated Cardiomyopathy
Interventions
Family History + Whole Genome Sequencing, Family History Only
Other
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
18 Years to 90 Years
Enrollment
213 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2021
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Aug 27, 2024 · Synced Oct 18, 2026, 1:16 AM EDT
Completed No phase listed Observational

Informed Choice Regarding Invasive Prenatal Testing

NCT00514553
View directory record Official record
Conditions
Pregnancy - Prenatal Testing
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 55 Years · Female only
Enrollment
37 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2011
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 2, 2017 · Synced Oct 18, 2026, 1:16 AM EDT
Completed No phase listed Observational

Clinical and Molecular Investigations Into Ciliopathies

NCT00068224
View directory record Official record
Conditions
Ciliopathy
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
5 Months to 80 Years
Enrollment
374 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2021
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Feb 21, 2021 · Synced Oct 18, 2026, 1:16 AM EDT
Terminated No phase listed Observational Accepts healthy volunteers

The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity

NCT01421888
View directory record Official record
Conditions
Argininosuccinic Aciduria, Carbamoyl-Phosphate Synthase I Deficiency, Citrullinemia, Ornithine Carbamoyltransferase Deficiency, Hyperargininemia, N-Acetylglutamate Synthase Deficiency
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
2 Years to 99 Years
Enrollment
4 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2013
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 9, 2019 · Synced Oct 18, 2026, 1:16 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Multi-Omics for Maternal Health After Preeclampsia

NCT06340152
View directory record Official record
Conditions
Pre-Eclampsia, Pregnancy Induced Hypertension
Interventions
Not listed
Lead sponsor
University of California, San Diego
Other
Eligibility
18 Years to 50 Years · Female only
Enrollment
1,100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2028
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Apr 6, 2025 · Synced Oct 18, 2026, 1:16 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Uncertain Genetic Test Results for Lynch Syndrome

NCT01646112
View directory record Official record
Conditions
HNPCC
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 100 Years
Enrollment
27 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2016
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 17, 2019 · Synced Oct 18, 2026, 1:16 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Risk Evaluation and Education for Alzheimer's Disease

NCT00571025
View directory record Official record
Conditions
Alzheimer's Disease
Interventions
APOE Disclosure
Behavioral
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 85 Years
Enrollment
301 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2000 – 2004
U.S. locations
3
States / cities
Boston, Massachusetts • New York, New York • Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Jul 23, 2009 · Synced Oct 18, 2026, 1:16 AM EDT