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ClinicalTrials.gov public records Last synced Oct 19, 2026, 5:02 PM EDT

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Showing 241–258 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 19, 2026, 5:02 PM EDT
Not listed Not applicable Interventional

Overcoming Barriers to Accessing Genetic Medicine

NCT05064241
View directory record Official record
Conditions
Genetic Disease, Genetic Predisposition
Interventions
Access to Genetic Counselor for answering questions
Other
Lead sponsor
Boston Children's Hospital
Other
Eligibility
18 Years and older
Enrollment
70 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jul 3, 2024 · Synced Oct 19, 2026, 5:02 PM 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 19, 2026, 5:02 PM EDT
Completed No phase listed Observational

Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences

NCT00340964
View directory record Official record
Conditions
Craniofacial Differences
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
12 Years to 20 Years
Enrollment
44 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2014
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 12, 2019 · Synced Oct 19, 2026, 5:02 PM EDT
Completed No phase listed Observational

Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2)

NCT03478839
View directory record Official record
Conditions
Generalized Arterial Calcification of Infancy, Autosomal Recessive Hypophosphatemic Rickets Type2
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Year to 110 Years
Enrollment
48 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 16, 2026 · Synced Oct 19, 2026, 5:02 PM EDT
Terminated No phase listed Observational

Predicting Medication Response for Autoimmune Disease

NCT04995783
View directory record Official record
Conditions
Ulcerative Colitis, Crohn's Disease, Psoriasis, Rheumatoid Arthritis
Interventions
Coral FRS test
Diagnostic Test
Lead sponsor
Coral Genomics, Inc.
Industry
Eligibility
18 Years and older
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2022
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated May 19, 2023 · Synced Oct 19, 2026, 5:02 PM 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 19, 2026, 5:02 PM EDT
Completed No phase listed Observational

Evaluation of Patients With Unresolved Chromosome Abnormalities

NCT00001639
View directory record Official record
Conditions
Abnormalities, Failure to Thrive, Mental Retardation, Microcephaly
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
Not listed
Enrollment
263 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1996 – 2000
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 4, 2008 · Synced Oct 19, 2026, 5:02 PM EDT
Completed Phase 2 Interventional Results available

Long-Term Study of Nitisinone to Treat Alkaptonuria

NCT00107783
View directory record Official record
Conditions
Alkaptonuria
Interventions
Nitisinone (NTBC)
Drug
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
30 Years to 80 Years
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2009
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 26, 2021 · Synced Oct 19, 2026, 5:02 PM EDT
Withdrawn Phase 1Phase 2 Interventional

A Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of SEL-302 in Pediatric Subjects With MMA

NCT05778877
View directory record Official record
Conditions
Methylmalonic Acidemia (MMA)
Interventions
SEL-302
Drug
Lead sponsor
Selecta Biosciences, Inc.
Industry
Eligibility
3 Years to 17 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2029
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 24, 2024 · Synced Oct 19, 2026, 5:02 PM 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 19, 2026, 5:02 PM 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 19, 2026, 5:02 PM EDT
Completed Phase 1 Interventional

Treatment of SCID Due to ADA Deficiency With Autologous Transplantation of Cord Blood or Hematopoietic CD 34+ Cells After Addition of a Normal Human ADA cDNA by the EFS-ADA Lentiviral Vector

NCT02022696
View directory record Official record
Conditions
Adenosine Deaminase Deficiency, ADA-SCID
Interventions
Lentiviral Gene Transfer
Genetic
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Year to 65 Years
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2017
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 27, 2017 · Synced Oct 19, 2026, 5:02 PM EDT
Completed No phase listed Observational

Lung Disease Associated With Rheumatoid Arthritis

NCT00001876
View directory record Official record
Conditions
Pulmonary Fibrosis
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
21 Years and older
Enrollment
132 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1999 – 2007
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 29, 2022 · Synced Oct 19, 2026, 5:02 PM 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 19, 2026, 5:02 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Genetic Risk: Whether, When, and How to Tell Adolescents

NCT03421327
View directory record Official record
Conditions
Huntington Disease, Hereditary Breast and Ovarian Cancer, Hereditary Cancer, Hereditary Non-polyposis Colon Cancer, Hereditary Non-Polyposis Colorectal Cancer Syndrome
Interventions
Not listed
Lead sponsor
Johns Hopkins University
Other
Eligibility
15 Years and older
Enrollment
85 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2018
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Feb 7, 2019 · Synced Oct 19, 2026, 5:02 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Genomic Medicine Risk Assessment Care for Everyone - Implementation Phase

NCT06278883
View directory record Official record
Conditions
Cardiovascular Diseases, Cancer, Liver Diseases, Hyperthermia
Interventions
Disease Risk Assessment
Behavioral
Lead sponsor
Duke University
Other
Eligibility
18 Years and older
Enrollment
245 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2025
U.S. locations
4
States / cities
Jacksonville, Florida • Orange Park, Florida
Source: ClinicalTrials.gov public record
Updated Apr 9, 2026 · Synced Oct 19, 2026, 5:02 PM EDT
Recruiting No phase listed Observational

Use of Cysteamine in the Treatment of Cystinosis

NCT00359684
View directory record Official record
Conditions
Cystinosis
Interventions
Cysteamine
Drug
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Week to 115 Years
Enrollment
330 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1979
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 16, 2026 · Synced Oct 19, 2026, 5:02 PM EDT