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ClinicalTrials.gov public records Last synced Oct 17, 2026, 9:13 AM EDT

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Showing 49–72 of 258 matching trials from the live ClinicalTrials.gov search.
Filters: Sponsor: National Human Genome Research Institute (NHGRI) Clear all
Recruiting No phase listed Observational

A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders

NCT06092346
View directory record Official record
Conditions
AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency, AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency, TPMT, OMIM *187680, Thoipurines, Poor Metabolism of, IMPDH1, OMIM *146690, Retinitis Pigmentosa Type 10, Leber Congenital Amauriosis Type 11, APRT, OMIM *102600, Adenine Phosphoribosyltransferase Deficiency, HPRT1, OMIM *308000 Lesch-Nyhan Disease, XDH, OMIM *607633, Xanthinuria Type 1, SLC2A9, OMIM *606142 Hypouricemia, SLC22A12, OMIM *607096 Hypouricemia, PRPS1 Def, OMIM *311850, Arts Syndrome; Charcot-Marie-Tooth Disease, PRPS1 SA, OMIM *311850 Gout, PRPS-related Phosphoribosylpyrophosphate Synthetase Superactivity, AMPD2, OMIM *102771, Spastic Paraplegia 63; Pontocerebellar Hypoplasia, ITPA, OMIM *147520, Inosine Triphosphatase Deficiency; Developmental and Epileptic Encephalopathy 35, ADSL, OMIM *608222, Adenylosuccinate Lyase Deficiency, PNP, OMIM *164050, Nucleoside Phosphorylase Deficiency, ADA2, OMIM *607575,Sneddon Syndrome; VAIHS, CAD, *1140120, Developmental and Epileptic Encephalopathy, UPB1, OMIM *606673, Beta-ureidopropionase Deficiency, DPYS, OMIM *613326, Dihydropyrimidinase Deficiency, DPYD, OMIM *274270, Dihydropyrimidine Dehydrogenase Deficiency, DHODH, OMIM *126064, Miller Syndrome (Postaxial Acrofacial Dysostosis), UMPS, OMIM *613891, Orotic Aciduria, NT5C3A<TAB>, OMIM *606224, Anemia, Hemolytic, Due to UMPH1 Deficiency, UNG, OMIM *191525, Hyper-IgM Syndrome 5, AICDA, OMIM *605257, Immunodeficiency With Hyper-IgM, Type 2; HIGM2, Purine-Pyrimidine Metabolism, Metabolic Disease
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month to 100 Years
Enrollment
999 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2099
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 19, 2026 · Synced Oct 17, 2026, 9:13 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Diagnosis and Treatment of Patients With Inborn Errors of Metabolism

NCT00369421
View directory record Official record
Conditions
Arterial Calcification Due to Deficiency of CD73
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month to 115 Years
Enrollment
4,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 1978
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 13, 2026 · Synced Oct 17, 2026, 9:13 AM EDT
Terminated No phase listed Observational

Genetics and Clinical Characteristics of Bardet-Biedl Syndrome

NCT00078091
View directory record Official record
Conditions
Bardet-Biedl Syndrome
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
Not listed
Enrollment
194 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2016
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 4, 2019 · Synced Oct 17, 2026, 9:13 AM EDT
Completed No phase listed Observational

Genetics of Rheumatoid Arthritis

NCT00001678
View directory record Official record
Conditions
Rheumatoid Arthritis
Interventions
Not listed
Lead sponsor
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
NIH
Eligibility
18 Years and older
Enrollment
39 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1998 – 2014
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 6, 2017 · Synced Oct 17, 2026, 9:13 AM EDT
Completed Not applicable Interventional

Decision Support Following Genetic Testing for Breast-Ovarian Cancer Susceptibility

NCT02133703
View directory record Official record
Conditions
Breast Cancer, Ovarian Cancer
Interventions
Enhanced Internet DA, Internet DA, Enhanced Print DA, Print DA, Inconclusive Results DA
Behavioral
Lead sponsor
Georgetown University
Other
Eligibility
21 Years to 75 Years · Female only
Enrollment
369 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2022
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Source: ClinicalTrials.gov public record
Updated Oct 14, 2022 · Synced Oct 17, 2026, 9:13 AM EDT
Completed No phase listed Observational

Developing Newborn Screening for Infants With Primary Immunodeficiency

NCT00113464
View directory record Official record
Conditions
Immune System Diseases
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
Not listed
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2007
U.S. locations
1
States / cities
New Haven, Connecticut
Source: ClinicalTrials.gov public record
Updated Jul 2, 2017 · Synced Oct 17, 2026, 9:13 AM EDT
Completed Not applicable Interventional Results available

Genomic Sequencing for Childhood Risk and Newborn Illness

NCT02422511
View directory record Official record
Conditions
Hereditary Disease, Genetic Predisposition to Disease
Interventions
Genomic sequencing, Family history report
Genetic · Other
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
Not listed
Enrollment
1,205 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2021
U.S. locations
2
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Apr 3, 2024 · Synced Oct 17, 2026, 9:13 AM EDT
Completed No phase listed Observational

Positional Cloning of the Gene(s) Responsible for Alagille Syndrome

NCT00001642
View directory record Official record
Conditions
Alagille Syndrome
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
Not listed
Enrollment
225 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1997 – 2000
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 4, 2008 · Synced Oct 17, 2026, 9:13 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Where Does Hope Fit In? The Relationship Between Hope, Uncertainty, and Coping Efficacy in Mothers of Children With Duchenne/Becker Muscular Dystrophy

NCT02194725
View directory record Official record
Conditions
Stress
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years and older
Enrollment
228 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2017
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Apr 5, 2018 · Synced Oct 17, 2026, 9:13 AM EDT
Enrolling by invitation No phase listed Observational Accepts healthy volunteers

Genetic Studies of Lysosomal Storage Disorders

NCT00001215
View directory record Official record
Conditions
Lysosomal Storage Disorders, Gaucher Disease, Parkinson Disease
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Week to 110 Years
Enrollment
1,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 1995
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 22, 2026 · Synced Oct 17, 2026, 9:13 AM EDT
Completed Phase 1Phase 2 Interventional Results available

Nitisinone for Type 1B Oculocutaneous Albinism

NCT01838655
View directory record Official record
Conditions
Albinism, Vision Loss
Interventions
Nitisinone
Drug
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
18 Years and older
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2017
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Feb 26, 2019 · Synced Oct 17, 2026, 9:13 AM EDT
Completed Phase 1 Interventional

Phase I Clinical Trial of ManNAc in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM)

NCT01634750
View directory record Official record
Conditions
Hereditary Inclusion Body Myopathy (HIBM), GNE Myopathy
Interventions
ManNAc
Drug
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 70 Years
Enrollment
26 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2013
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 19, 2017 · Synced Oct 17, 2026, 9:13 AM EDT
Completed No phase listed Observational

Examining the Knowledge, Attitudes, and Beliefs of Sickle Cell Disease Patients, Parents of Patients With Sickle Cell Disease, and Providers Towards the Integration of CRISPR in Clinical Care

NCT03167450
View directory record Official record
Conditions
Sickle Cell Disease
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years and older
Enrollment
109 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2021
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Feb 9, 2021 · Synced Oct 17, 2026, 9:13 AM EDT
Terminated No phase listed Observational Accepts healthy volunteers

Family Communication of Hereditary Breast and Ovarian Cancer Risk Among African Americans

NCT01374685
View directory record Official record
Conditions
Ovarian Neoplasm, Cancer Genetics, Breast Cancer
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years and older · Female only
Enrollment
8 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2016
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 3, 2019 · Synced Oct 17, 2026, 9:13 AM EDT
Completed No phase listed Observational

Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion Bodies

NCT00006176
View directory record Official record
Conditions
Familial Dementia With Neuroserpin Inclusion Bodies, Nervous System Heredodegenerative Disorder
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
10 Years and older
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2009
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 2, 2017 · Synced Oct 17, 2026, 9:13 AM EDT
Completed No phase listed Observational

Clinical and Genetic Studies of VACTERL Association

NCT00766571
View directory record Official record
Conditions
Congenital Abnormalities, Birth Defects, Congenital Defects
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
Up to 100 Years
Enrollment
304 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2017
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Nov 15, 2019 · Synced Oct 17, 2026, 9:13 AM EDT
Terminated No phase listed Observational

Genetic Studies of Non-Alcoholic Fatty Liver Disease

NCT01629095
View directory record Official record
Conditions
Non-Alcoholic Steato-Hepatitis, Liver Cirrhosis, Non-Alcoholic Fatty Liver Disease
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month and older
Enrollment
17 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2017
U.S. locations
5
States / cities
San Francisco, California • Bethesda, Maryland • Chapel Hill, North Carolina + 2 more
Source: ClinicalTrials.gov public record
Updated Nov 27, 2020 · Synced Oct 17, 2026, 9:13 AM EDT
Completed No phase listed Observational

Physicians' Understanding of Human Genetic Variation

NCT00339924
View directory record Official record
Conditions
Genetics
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 115 Years
Enrollment
1,258 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2012
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated May 4, 2025 · Synced Oct 17, 2026, 9:13 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

REVEAL III: Risk Evaluation and Education for Alzheimer's Disease

NCT00462917
View directory record Official record
Conditions
Alzheimer Disease
Interventions
Pleiotropic info, in-person disclosure, AD-only info, in-person disclosure, Pleiotropic info, phone disclosure, AD-only info, phone disclosure
Behavioral
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
18 Years to 85 Years
Enrollment
290 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2007 – 2009
U.S. locations
4
States / cities
Washington D.C., District of Columbia • Boston, Massachusetts • Ann Arbor, Michigan + 1 more
Source: ClinicalTrials.gov public record
Updated Oct 23, 2018 · Synced Oct 17, 2026, 9:13 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Caregiving Networks Across Disease Context and the Life Course

NCT05007990
View directory record Official record
Conditions
Inherited Metabolic Disorders, Undiagnosed Diseases, Batten's Disease, Tay Sachs, Diabetes
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 100 Years
Enrollment
2,800 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2030
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 15, 2026 · Synced Oct 17, 2026, 9:13 AM EDT
Completed Phase 1 Interventional

Twins Study of Gene Therapy for HIV Infection

NCT00001535
View directory record Official record
Conditions
Acquired Immunodeficiency Syndrome, HIV Infection, Kaposi's Sarcoma
Interventions
Syngeneic Lymphocytes (CD4+) Cultured with OKT3 (Ortho) and Interleukin-2 (Chiro
Drug
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
Not listed
Enrollment
48 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1996 – 2002
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Feb 8, 2008 · Synced Oct 17, 2026, 9:13 AM EDT
Completed No phase listed Observational

Participation in a Research Registry for Immune Disorders

NCT01953016
View directory record Official record
Conditions
Primary Immunodeficiencies, APECED, CGD, Wiskott-Aldrich Syndrome, SCID
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month and older
Enrollment
716 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2023
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 20, 2023 · Synced Oct 17, 2026, 9:13 AM EDT
Completed No phase listed Observational

Where Culture Meets Genetics: Exploring Latinas Causal Attributions of Breast and Colon Cancer and Models of Disease Inheritance

NCT02767986
View directory record Official record
Conditions
Colon Cancer, Breast Cancer
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 75 Years · Female only
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2017
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 3, 2024 · Synced Oct 17, 2026, 9:13 AM EDT
Completed Not applicable Interventional

NCGENES: North Carolina Clinical Genomic Evaluation by NextGen Exome Sequencing

NCT01969370
View directory record Official record
Conditions
Cancer, Cardiovascular Disease, Neurologic Dysfunction, Congenital Abnormalities, Hearing Loss
Interventions
Experimental
Behavioral
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
Not listed
Enrollment
645 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2017
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated May 3, 2017 · Synced Oct 17, 2026, 9:13 AM EDT