National Human Genome Research Institute (NHGRI)
Trial Pipeline
Deciphering the Genetic Architecture of Autoimmune Diseases
NCT06948110
Observational Study of Advanced Data Analytics in Genetic Conditions
NCT05657405
An Open-Label Phase 2 Study of N-Acetyl-D-Mannosamine (ManNAc) in Subjects With Primary Focal Segmental Glomerulosclerosis
NCT06664814
Cybersickness Prevention and Mitigation in Virtual Reality for Healthy Volunteers
NCT06552754
Study to Understand the Genetic Risk of Developing an Immune Response After Blood Transfusions Among Individuals With Sickle Cell Disease
NCT06944067
Childhood-Onset Essential Hypertension Natural History Study
NCT06778239
A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
NCT06092346
Caregiving Networks Across Disease Context and the Life Course
NCT05007990
MK-7075 (Miransertib) in Proteus Syndrome
NCT04316546
Acute Infection in Mitochondrial Disease: Metabolism, Infection and Immunity
NCT04419870
IDENTIFY Study: Natural History of Maternal Neoplasia
NCT04049604
A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis
NCT03952637
Longitudinal Studies of Patient With FPDMM
NCT03854318
Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia
NCT02890342
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
NCT02450851
Genomic Services Research Program
NCT02595957
Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation
NCT02089789
The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism
NCT01780168
A Natural History Study of Patients With GNE Myopathy and GNE-Related Diseases
NCT01417533
Genome Medical Sequencing for Gene Discovery
NCT01087320
Studies of Skin Microbes in Healthy People and in People With Skin Conditions
NCT00605878
Clinical and Laboratory Study of Methylmalonic Acidemia
NCT00078078
Study of Chediak-Higashi Syndrome
NCT00005917
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
NCT00029965
Study of Alkaptonuria
NCT00005909
Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
NCT00001456
Study of Proteus Syndrome and Related Congenital Disorders
NCT00001403
Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics
NCT00001373
Use of Cysteamine in the Treatment of Cystinosis
NCT00359684
Diagnosis and Treatment of Patients With Inborn Errors of Metabolism
NCT00369421
ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study
NCT00410241
Analysis of Specimens From Individuals With Pulmonary Fibrosis
NCT00084305
Natural History Study of Smith-Magenis Syndrome
NCT00013559
Care Choreographies and the Making of the Psychosocial in Genetic Counseling
NCT06280833
Living With Sickle Cell Disease in the COVID-19 Pandemic
NCT04417673
Adult Patients With Undiagnosed Conditions and Their Responses to Clinically Uncertain Results From Exome Sequencing
NCT03605004
Pregnant Women s Views About the Ethics of Prenatal Whole Genome Sequencing
NCT03105492
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
Where Culture Meets Genetics: Exploring Latinas Causal Attributions of Breast and Colon Cancer and Models of Disease Inheritance
NCT02767986
Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol
NCT02322177
Insights Into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS Study)
NCT02156102
Black Family Eating Behaviors Study
NCT02015078
Patient Perspectives and Doctor Visits
NCT01888913
Effect of Lung Cancer Diagnoses on Family Behaviors
NCT01862770
Family Genetics Health Education and Healthy Behaviors
NCT01498276
Informed Consent for Whole Genome Sequencing: Ideals and Norms Referenced by Early Participants
NCT01369953
The Perceived Impact of Children s Risk Status for Hypertrophic Cardiomyopathy on Families: an Exploratory Study
NCT01160536
The Role of Family Functioning in Adaptation to Being a Caregiver of an Individual With Rett Syndrome
NCT00891956
Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism
NCT00808106
A Study of the Genetic Analysis of Brain Disorders
NCT00645645
Informed Choice Regarding Invasive Prenatal Testing
NCT00514553
Treatment Strategies for Children With Smith-Magenis Syndrome
NCT00506259
Predictors of Caregiver Adaptation to Pervasive Developmental Disorders
NCT00496210
African American Families and Lung Cancer Study
NCT00487760
Genetic Counselors' Experiences of Moral Value Conflicts With Clients
NCT00360711
Use of Virtual Reality to Communicate Concepts of Genomics to the General Public
NCT00316056
Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)
NCT00106977
Genetic Analysis of Craniofrontonasal Syndrome
NCT00339846
Study of Megakaryocytes From Patients With Abnormal Platelet Vesicles
NCT00086476
Genetic Analysis of Gray Platelet Syndrome
NCT00069680
Genetic Analysis of Fraser Syndrome and Fryns Syndrome
NCT00032877
Analysis of Prostate Cancer Short-Term Cultures Using Molecular Cytogenetic Methods
NCT00022919
Gene Transfer Therapy for Severe Combined Immunodeficieny Disease (SCID) Due to Adenosine Deaminase (ADA) Deficiency
NCT00018018
Influences on Female Adolescents' Decisions Regarding Testing for Carrier Status of XSCID
NCT00006335
Gene Therapy and Ganciclovir in Treating Patients With Stage IV Melanoma
NCT00005057
Study of the Experiences and Needs of Parents Continuing a Pregnancy Following a Prenatal Diagnosis of Holopresencephaly
NCT00005016
Study of Heritable Connective Tissue Disorders
NCT00001641
Evaluation of Patients With Unresolved Chromosome Abnormalities
NCT00001639
Twins Study of Gene Therapy for HIV Infection
NCT00001535
Phase Distribution
| Phase | Trial count |
|---|---|
| Phase 1 | 5 |
| Phase 2 | 2 |
Therapeutic Areas
What the Pipeline for National Human Genome Research Institute (NHGRI) Shows
According to the ClinicalTrials.gov registry, National Human Genome Research Institute (NHGRI) is linked to 242 US clinical trials across every stage of research activity. Of those, 203 studies are currently recruiting — about 84% of the sponsor's indexed portfolio — and 36 are already marked complete, representing roughly 15% of the total. Recruiting share is one of the more practical signals here: it reflects how much of a sponsor's research is presently open to new participants, while the completed share indicates the depth of finished work that has already contributed registry results. Both counts come directly from the public ClinicalTrials.gov dataset and are refreshed on the registry side; this page mirrors the latest data pull without altering it.
The phase mix for National Human Genome Research Institute (NHGRI) reports 0 late-stage studies (Phase 3 and Phase 4 combined) and 7 earlier-phase studies (Phase 1 and Phase 2). A portfolio weighted toward Phase 3 usually reflects an organization advancing candidates toward regulatory review, where the research centers on comparative efficacy and broader safety across larger populations. A heavier Phase 1 and Phase 2 tilt generally indicates exploratory work — safety, dosing, and early signal detection — and is common among research-forward sponsors that seed many early programs. Phase 4 entries, when present, track interventions already in real-world use and typically focus on long-term safety, effectiveness across subgroups, or formulation comparisons.
The top therapeutic focus area indexed for National Human Genome Research Institute (NHGRI) is Proteus Syndrome with 3 linked trials, and 9 other condition areas appear in the top list above. That distribution is a quick read of where the organization concentrates its research attention; it does not imply product availability, market share, or any clinical endorsement. All numbers on this page come from ClinicalTrials.gov maintained by the National Library of Medicine, and counts can shift as new studies are registered or existing ones update their status. This information is provided for reference and educational purposes only, not as medical, investment, or regulatory advice — verify current details directly with ClinicalTrials.gov before relying on any figure here.
Read our methodology — how this data is sourced, computed, and verified.