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ClinicalTrials.gov public records Last synced Oct 17, 2026, 9:59 AM EDT

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Showing 73–96 of 258 matching trials from the live ClinicalTrials.gov search.
Filters: Sponsor: National Human Genome Research Institute (NHGRI) Clear all
Completed Not applicable Interventional Accepts healthy volunteers Results available

Clinical Implementation of Carrier Status Using Next Generation Sequencing

NCT01902901
View directory record Official record
Conditions
Genetic Disorders
Interventions
Whole Genome Sequencing, Carrier status testing
Genetic
Lead sponsor
Kaiser Permanente
Other
Eligibility
21 Years to 50 Years
Enrollment
384 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2018
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Apr 17, 2019 · Synced Oct 17, 2026, 9:59 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Personalized Genomic Research

NCT01294345
View directory record Official record
Conditions
Genetics, Genetic Disease, Genetic Linkage, Birth Defects, Genetic Variation
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month and older
Enrollment
353 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2020
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 14, 2020 · Synced Oct 17, 2026, 9:59 AM EDT
Completed Phase 3 Interventional

Standard Genetic Counseling With or Without a Decision Guide in Improving Communication Between Mothers Undergoing BRCA1/2 Testing and Their Minor-Age Children

NCT00685256
View directory record Official record
Conditions
Breast Cancer, Hereditary Breast/Ovarian Cancer (brca1, brca2)
Interventions
counseling intervention, educational intervention, survey administration, psychosocial assessment and care, supportive care
Other · Behavioral
Lead sponsor
Georgetown University
Other
Eligibility
8 Years to 120 Years · Female only
Enrollment
245 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2015
U.S. locations
2
States / cities
Washington D.C., District of Columbia • Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated May 17, 2017 · Synced Oct 17, 2026, 9:59 AM EDT
Completed No phase listed Observational

Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol

NCT02322177
View directory record Official record
Conditions
Inborn Errors of Metabolism, Pregnancy, Acidemias
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
14 Years to 50 Years · Female only
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2018
U.S. locations
2
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 16, 2026 · Synced Oct 17, 2026, 9:59 AM EDT
Active, not recruiting Not applicable Interventional

CHOICES3: Sickle Cell Disease Parenting CHOICES

NCT05292781
View directory record Official record
Conditions
Sickle Cell Disease, Sickle Cell Trait
Interventions
CHOICES, eBook
Other
Lead sponsor
University of Florida
Other
Eligibility
18 Years to 45 Years
Enrollment
506 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
1
States / cities
Gainesville, Florida
Source: ClinicalTrials.gov public record
Updated Jan 15, 2026 · Synced Oct 17, 2026, 9:59 AM EDT
Not yet recruiting Not applicable Interventional

Overcoming Barriers to Uptake of Cascade Screening

NCT07304063
View directory record Official record
Conditions
Lynch Syndrome
Interventions
Let's Talk Genetics Providers, Let's Talk Patients
Behavioral
Lead sponsor
UNC Lineberger Comprehensive Cancer Center
Other
Eligibility
18 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Aug 26, 2026 · Synced Oct 17, 2026, 9:59 AM EDT
Completed No phase listed Observational

The Genetic Basis of Congenital Heart Disease in Africa

NCT01952171
View directory record Official record
Conditions
Congenital Heart Disease, Heart Disease
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month to 115 Years
Enrollment
1,233 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2013
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Source: ClinicalTrials.gov public record
Updated Oct 13, 2026 · Synced Oct 17, 2026, 9:59 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia

NCT02890342
View directory record Official record
Conditions
Metabolic Disease, Propionic Acidemia, Organic Acidemia
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month to 100 Years
Enrollment
1,045 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2036
U.S. locations
2
States / cities
Bethesda, Maryland • Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Oct 16, 2026 · Synced Oct 17, 2026, 9:59 AM EDT
Completed No phase listed Observational

Genetic Epidemiology of Lung Cancer

NCT00341835
View directory record Official record
Conditions
Lung Cancer
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
5 Years and older
Enrollment
6,356 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2020
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Apr 21, 2020 · Synced Oct 17, 2026, 9:59 AM EDT
Terminated No phase listed Observational

Genetic Analysis of Neural Tube and Orofacial Cleft Defects in the Irish Population

NCT00341068
View directory record Official record
Conditions
Neural Tube Defects (NTDs), Facial Cleft Defect, Hereditary Oral Clefts
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
Up to 85 Years
Enrollment
7,451 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2019
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 5, 2019 · Synced Oct 17, 2026, 9:59 AM EDT
Completed Phase 2 Interventional

Mind-Body Therapy for Pain in Ehlers-Danlos Syndrome

NCT00001966
View directory record Official record
Conditions
Ehlers-Danlos Syndrome, Pain
Interventions
Mind-body therapy
Drug
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
Not listed
Enrollment
40 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 17, 2026, 9:59 AM EDT
Not listed No phase listed Observational

Molecular and Clinical Studies of Primary Immunodeficiency Diseases

NCT00006319
View directory record Official record
Conditions
Wiskott- Aldrich Syndrome, ADA Deficient SCID
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
3 Years and older
Enrollment
266 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2000
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 19, 2024 · Synced Oct 17, 2026, 9:59 AM EDT
Recruiting No phase listed Observational

Study of Proteus Syndrome and Related Congenital Disorders

NCT00001403
View directory record Official record
Conditions
Proteus Syndrome, PIK3CA Related Overgrowth Spectrum
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month to 99 Years
Enrollment
1,500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1994
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 22, 2026 · Synced Oct 17, 2026, 9:59 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Acute Infection in Mitochondrial Disease: Metabolism, Infection and Immunity

NCT04419870
View directory record Official record
Conditions
Mitochondrial Disease
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
2 Months to 115 Years
Enrollment
400 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2099
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 10, 2026 · Synced Oct 17, 2026, 9:59 AM EDT
Completed No phase listed Observational

Effect of Lung Cancer Diagnoses on Family Behaviors

NCT01862770
View directory record Official record
Conditions
Lung Cancer, Blood Relatives of Patient w/Lung Cancer, Cigarette Smokers
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 55 Years
Enrollment
507 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2016
U.S. locations
2
States / cities
Tampa, Florida • Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Apr 5, 2018 · Synced Oct 17, 2026, 9:59 AM EDT
Completed No phase listed Observational

Testing Spanish-language Genetic Literacy

NCT01610583
View directory record Official record
Conditions
Genetic Literacy
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 75 Years
Enrollment
117 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2015
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 17, 2019 · Synced Oct 17, 2026, 9:59 AM EDT
Completed No phase listed Observational

Transitional Life Events in Patients With Friedreich's Ataxia: Implications for Genetic Counseling

NCT00056186
View directory record Official record
Conditions
Friedreich Ataxia
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
Not listed
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2004
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 4, 2008 · Synced Oct 17, 2026, 9:59 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Observational Study of Advanced Data Analytics in Genetic Conditions

NCT05657405
View directory record Official record
Conditions
Genetic Conditions
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Day to 120 Years
Enrollment
1,250 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2026 – 2032
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 18, 2026 · Synced Oct 17, 2026, 9:59 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

North Carolina Newborn Exome Sequencing for Universal Screening

NCT02826694
View directory record Official record
Conditions
Metabolism, Inborn Errors, Hearing Loss, Hereditary Disease
Interventions
Well infant, whole exome sequencing, Diagnosed, whole exome sequencing
Genetic
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
1 Hour to 5 Years
Enrollment
106 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2019
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Jul 8, 2020 · Synced Oct 17, 2026, 9:59 AM EDT
Completed No phase listed Observational

Prevalence of Ambivalence Regarding Prenatal Testing

NCT00342069
View directory record Official record
Conditions
Pregnancy
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years and older · Female only
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2007
U.S. locations
6
States / cities
Washington D.C., District of Columbia • Baltimore, Maryland • Minneapolis, Minnesota + 3 more
Source: ClinicalTrials.gov public record
Updated Jul 2, 2017 · Synced Oct 17, 2026, 9:59 AM EDT
Completed No phase listed Observational

Perspectives of Individuals With Bipolar Disorder and Siblings of Individuals With Bipolar Disorder; A Telephone Interview Study

NCT00300820
View directory record Official record
Conditions
Bipolar Disorder (BD), Bipolar
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years and older
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2008
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 2, 2017 · Synced Oct 17, 2026, 9:59 AM EDT
Completed No phase listed Observational

Influences on Female Adolescents' Decisions Regarding Testing for Carrier Status of XSCID

NCT00006335
View directory record Official record
Conditions
Severe Combined Immunodeficiency
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
13 Years to 17 Years · Female only
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2000
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 2, 2017 · Synced Oct 17, 2026, 9:59 AM EDT
Recruiting No phase listed Observational

Childhood-Onset Essential Hypertension Natural History Study

NCT06778239
View directory record Official record
Conditions
Hypertension, Essential Hypertension
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
2 Years to 99 Years
Enrollment
2,300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2034
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 3, 2026 · Synced Oct 17, 2026, 9:59 AM EDT
Completed Phase 1 Interventional

Intravenous Immune Globulin to Treat Hereditary Inclusion Body Myopathy

NCT00195637
View directory record Official record
Conditions
Hereditary Inclusion Body Myopathy
Interventions
Immune Globulin
Drug
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 70 Years
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2006
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 4, 2019 · Synced Oct 17, 2026, 9:59 AM EDT