National Human Genome Research Institute (NHGRI) clinical trials
Listed in the registry as: U.S. National Institutes of Health.
The registry lists 203 studies whose lead sponsor is National Human Genome Research Institute (NHGRI). 32 are recruiting or about to start. Per ClinicalTrials.gov, last updated Oct 23, 2026.
Keep track of what changes. Save the National Human Genome Research Institute (NHGRI) studies recruiting or about to start, and get an email each week — studies that open, close, add sites or post results.
Watch these studiesFocus areas
Conditions National Human Genome Research Institute (NHGRI) leads ten or more studies in, by study count. A broader condition is left out when almost all its studies are already in a narrower one listed here.
Studies
Recruiting first, then most recently updated. Showing 50 of 203. Browse all 203 →
- Genetic Analysis of Uncommon Disease Presentations in Non-US PopulationsRecruitingNCT06595940
- An Open-Label Phase 2 Study of N-Acetyl-D-Mannosamine (ManNAc) in Subjects With Podocyte DiseasesRecruitingNCT06664814Phase 2
- Deciphering the Genetic Architecture of Autoimmune DiseasesRecruitingNCT06948110
- Genome Medical Sequencing for Gene DiscoveryRecruitingNCT01087320
- Natural History of Glycosphingolipid Storage Disorders and Glycoprotein DisordersRecruitingNCT00029965
- Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of GlycosylationRecruitingNCT02089789
- The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of MetabolismRecruitingNCT01780168
- Reverse Phenotyping CoreEnrolling by invitationNCT03632239
- Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic AcidemiaRecruitingNCT02890342
- Clinical and Laboratory Study of Methylmalonic AcidemiaRecruitingNCT00078078
- Study of AlkaptonuriaRecruitingNCT00005909
- Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases NetworkRecruitingNCT02450851
- Familial Mediterranean Fever and Related Disorders: Genetics and Disease CharacteristicsRecruitingNCT00001373
- Clinical and Basic Investigations Into Hermansky-Pudlak SyndromeRecruitingNCT00001456
- Studies of Skin Microbes in Healthy People and in People With Skin ConditionsRecruitingNCT00605878
- Diagnosis and Treatment of Patients With Inborn Errors of MetabolismRecruitingNCT00369421
- Longitudinal Studies of Patient With FPDMMRecruitingNCT03854318
- Genomic Services Research ProgramRecruitingNCT02595957
- IDENTIFY Study: Natural History of Maternal NeoplasiaRecruitingNCT04049604
- Study of Proteus Syndrome and Related Congenital DisordersRecruitingNCT00001403
- Genetic Studies of Lysosomal Storage DisordersEnrolling by invitationNCT00001215
- A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 GangliosidosisRecruitingNCT03952637Phase 1/2
- Use of Cysteamine in the Treatment of CystinosisRecruitingNCT00359684
- Caregiving Networks Across Disease Context and the Life CourseRecruitingNCT05007990
- Study to Understand the Genetic Risk of Developing an Immune Response After Blood Transfusions Among Individuals With Sickle Cell DiseaseRecruitingNCT06944067
- Acute Infection in Mitochondrial Disease: Metabolism, Infection and ImmunityRecruitingNCT04419870
- Genetics of Obesity, Diabetes, and Heart Disease in African Diaspora PopulationsEnrolling by invitationNCT01316783
- Cybersickness Prevention and Mitigation in Virtual Reality for Healthy VolunteersRecruitingNCT06552754Not applicable
- Childhood-Onset Essential Hypertension Natural History StudyRecruitingNCT06778239
- Study of Chediak-Higashi SyndromeRecruitingNCT00005917
- A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism DisordersRecruitingNCT06092346
- Observational Study of Advanced Data Analytics in Genetic ConditionsRecruitingNCT05657405
- Analysis of Specimens From Individuals With Pulmonary FibrosisActive, not recruitingNCT00084305
- Risk Communication Within Mexican-American FamiliesCompletedNCT00469339
- Genetics of Type 2 Diabetes in West AfricansCompletedNCT00837122
- Insights Into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS Study)CompletedNCT02156102
- Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry ProtocolCompletedNCT02322177
- Study on Moebius Syndrome and Congenital Facial Weakness DisordersCompletedNCT02055248
- Personalized Medicine Decision-Making in a Virtual Clinical SettingCompletedNCT02108041
- The Genetic Basis of Congenital Heart Disease in AfricaCompletedNCT01952171
- The Role of Uncertainty in Coping: The Experience of Parents of Children With Undiagnosed Medical ConditionsCompletedNCT01905865
- The Clinical Study of Sex Chromosome VariantsCompletedNCT01661010
- Inherited Diseases, Caregiving, and Social NetworksCompletedNCT01498263
- Developing the Family Map: Looking at Communal CopingCompletedNCT01633021
- Family Genetics Health Education and Healthy BehaviorsCompletedNCT01498276
- Positron Emission Tomography (PET) Imaging in People With Gaucher MutationsCompletedNCT00302146
- A Natural History Study of Patients With GNE Myopathy and GNE-Related DiseasesCompletedNCT01417533
- Natural History Study of Smith-Magenis SyndromeCompletedNCT00013559
- New Approaches for Empowering Studies of Asthma in Populations of African DescentCompletedNCT03937804
- Genetics of COVID-19 Susceptibility and ManifestationsCompletedNCT04371432