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National Human Genome Research Institute (NHGRI) clinical trial pipeline

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35 active trials 29 recruiting 10 disease areas 1 changes in 30 days

Data updated daily from ClinicalTrials.gov, last refresh 2026-10-11

What changed in the last 30 days

1 trial changed in the last 30 days: 0 stopped, 1 with a notable change, 0 with minor changes only.

  • Stopped: an ongoing trial was terminated, suspended or withdrawn.
  • Notable: the trial’s plan changed such as a big move in its timeline or size, a new primary endpoint, sponsor or phase, or recruiting opened or resumed.
  • Minor: routine progress and housekeeping, such as sites added or enrollment closed.

Active trials by phase

Phase 1/2
1
Phase 2
2
Not charted: 32 active trials with no phase listed on ClinicalTrials.gov (typically behavioural, device, procedure and observational studies).

Active trials top 25 of 35

NCT IDTitleConditionStatusUpdated
Phase 2
NCT06664814 An Open-Label Phase 2 Study of N-Acetyl-D-Mannosamine (ManNAc) in Subjects With Podocyte… Focal Segmental Glomerulosclerosis Recruiting 2026-10-09
NCT04316546 MK-7075 (Miransertib) in Proteus Syndrome Proteus Syndrome Active, Not Recruiting 2026-07-17
Phase 1/2
NCT03952637 A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human… Lysosomal Diseases Recruiting 2026-09-21
Not applicable
NCT06552754 Cybersickness Prevention and Mitigation in Virtual Reality for Healthy Volunteers Healthy Volunteers Recruiting 2026-09-10
Not specified
NCT03854318 Longitudinal Studies of Patient With FPDMM Inherited Hematological Diseases Recruiting 2026-10-09
NCT06595940 Genetic Analysis of Uncommon Disease Presentations in Non-US Populations Undiagnosed Diseases Recruiting 2026-10-09
NCT06948110 Deciphering the Genetic Architecture of Autoimmune Diseases Autoimmune Diseases Recruiting 2026-10-09
NCT00001373 Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics Familial Mediterranean Fever (FMF) Recruiting 2026-10-08
NCT00001456 Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome Hermansky-Pudlak Syndrome (HPS) Recruiting 2026-10-08
NCT00078078 Clinical and Laboratory Study of Methylmalonic Acidemia Organic Acidemia Recruiting 2026-10-08
NCT00369421 Diagnosis and Treatment of Patients With Inborn Errors of Metabolism Arterial Calcification Due to Deficiency of CD73 Recruiting 2026-10-08
NCT00605878 Studies of Skin Microbes in Healthy People and in People With Skin Conditions Eczema Recruiting 2026-10-08
NCT02595957 Genomic Services Research Program Colon Cancer Recruiting 2026-10-08
NCT02450851 Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the… Genetic Disease Recruiting 2026-10-07
NCT00029965 Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders Neurological Regression Recruiting 2026-10-02
NCT01087320 Genome Medical Sequencing for Gene Discovery Intellectual Disabilities Recruiting 2026-10-02
NCT01780168 The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism Oxidative Phosphorylation Deficiencies Recruiting 2026-10-02
NCT02089789 Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of… Congenital Disorders of Glycosylation Recruiting 2026-10-02
NCT04049604 IDENTIFY Study: Natural History of Maternal Neoplasia Maternal Neoplasia Recruiting 2026-10-01
NCT02890342 Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia Metabolic Disease Recruiting 2026-09-28
NCT00001403 Study of Proteus Syndrome and Related Congenital Disorders Proteus Syndrome Recruiting 2026-09-22
NCT00359684 Use of Cysteamine in the Treatment of Cystinosis Cystinosis Recruiting 2026-09-16
NCT05007990 Caregiving Networks Across Disease Context and the Life Course Inherited Metabolic Disorders Recruiting 2026-09-15
NCT06944067 Study to Understand the Genetic Risk of Developing an Immune Response After Blood… Sickle Cell Disease Recruiting 2026-09-11
NCT04419870 Acute Infection in Mitochondrial Disease: Metabolism, Infection and Immunity Mitochondrial Disease Recruiting 2026-09-10

Disease areas by active trials

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