National Human Genome Research Institute (NHGRI)

242 total trials 203 currently recruiting 36 completed

Trial Pipeline

RECRUITING

Deciphering the Genetic Architecture of Autoimmune Diseases

NCT06948110

RECRUITING

Observational Study of Advanced Data Analytics in Genetic Conditions

NCT05657405

RECRUITING Phase 2

An Open-Label Phase 2 Study of N-Acetyl-D-Mannosamine (ManNAc) in Subjects With Primary Focal Segmental Glomerulosclerosis

NCT06664814

RECRUITING NA

Cybersickness Prevention and Mitigation in Virtual Reality for Healthy Volunteers

NCT06552754

RECRUITING

Study to Understand the Genetic Risk of Developing an Immune Response After Blood Transfusions Among Individuals With Sickle Cell Disease

NCT06944067

RECRUITING

Childhood-Onset Essential Hypertension Natural History Study

NCT06778239

RECRUITING

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

NCT06092346

RECRUITING

Caregiving Networks Across Disease Context and the Life Course

NCT05007990

RECRUITING Phase 2

MK-7075 (Miransertib) in Proteus Syndrome

NCT04316546

RECRUITING

Acute Infection in Mitochondrial Disease: Metabolism, Infection and Immunity

NCT04419870

RECRUITING NA

IDENTIFY Study: Natural History of Maternal Neoplasia

NCT04049604

RECRUITING Phase 1

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

RECRUITING

Longitudinal Studies of Patient With FPDMM

NCT03854318

RECRUITING

Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia

NCT02890342

RECRUITING

Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network

NCT02450851

RECRUITING

Genomic Services Research Program

NCT02595957

RECRUITING

Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation

NCT02089789

RECRUITING

The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism

NCT01780168

RECRUITING

A Natural History Study of Patients With GNE Myopathy and GNE-Related Diseases

NCT01417533

RECRUITING

Genome Medical Sequencing for Gene Discovery

NCT01087320

RECRUITING

Studies of Skin Microbes in Healthy People and in People With Skin Conditions

NCT00605878

RECRUITING

Clinical and Laboratory Study of Methylmalonic Acidemia

NCT00078078

RECRUITING

Study of Chediak-Higashi Syndrome

NCT00005917

RECRUITING

Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders

NCT00029965

RECRUITING

Study of Alkaptonuria

NCT00005909

RECRUITING

Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome

NCT00001456

RECRUITING

Study of Proteus Syndrome and Related Congenital Disorders

NCT00001403

RECRUITING

Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics

NCT00001373

RECRUITING

Use of Cysteamine in the Treatment of Cystinosis

NCT00359684

RECRUITING

Diagnosis and Treatment of Patients With Inborn Errors of Metabolism

NCT00369421

ACTIVE NOT RECRUITING

ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study

NCT00410241

ACTIVE NOT RECRUITING

Analysis of Specimens From Individuals With Pulmonary Fibrosis

NCT00084305

ACTIVE NOT RECRUITING

Natural History Study of Smith-Magenis Syndrome

NCT00013559

COMPLETED

Care Choreographies and the Making of the Psychosocial in Genetic Counseling

NCT06280833

COMPLETED

Living With Sickle Cell Disease in the COVID-19 Pandemic

NCT04417673

COMPLETED

Adult Patients With Undiagnosed Conditions and Their Responses to Clinically Uncertain Results From Exome Sequencing

NCT03605004

COMPLETED

Pregnant Women s Views About the Ethics of Prenatal Whole Genome Sequencing

NCT03105492

COMPLETED

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

COMPLETED

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

NCT02767986

COMPLETED

Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol

NCT02322177

COMPLETED

Insights Into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS Study)

NCT02156102

COMPLETED

Black Family Eating Behaviors Study

NCT02015078

COMPLETED

Patient Perspectives and Doctor Visits

NCT01888913

COMPLETED

Effect of Lung Cancer Diagnoses on Family Behaviors

NCT01862770

COMPLETED

Family Genetics Health Education and Healthy Behaviors

NCT01498276

COMPLETED

Informed Consent for Whole Genome Sequencing: Ideals and Norms Referenced by Early Participants

NCT01369953

COMPLETED

The Perceived Impact of Children s Risk Status for Hypertrophic Cardiomyopathy on Families: an Exploratory Study

NCT01160536

COMPLETED

The Role of Family Functioning in Adaptation to Being a Caregiver of an Individual With Rett Syndrome

NCT00891956

COMPLETED

Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism

NCT00808106

COMPLETED

A Study of the Genetic Analysis of Brain Disorders

NCT00645645

COMPLETED

Informed Choice Regarding Invasive Prenatal Testing

NCT00514553

COMPLETED Phase 1

Treatment Strategies for Children With Smith-Magenis Syndrome

NCT00506259

COMPLETED

Predictors of Caregiver Adaptation to Pervasive Developmental Disorders

NCT00496210

COMPLETED

African American Families and Lung Cancer Study

NCT00487760

COMPLETED

Genetic Counselors' Experiences of Moral Value Conflicts With Clients

NCT00360711

COMPLETED

Use of Virtual Reality to Communicate Concepts of Genomics to the General Public

NCT00316056

COMPLETED

Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)

NCT00106977

COMPLETED

Genetic Analysis of Craniofrontonasal Syndrome

NCT00339846

COMPLETED

Study of Megakaryocytes From Patients With Abnormal Platelet Vesicles

NCT00086476

COMPLETED

Genetic Analysis of Gray Platelet Syndrome

NCT00069680

COMPLETED

Genetic Analysis of Fraser Syndrome and Fryns Syndrome

NCT00032877

COMPLETED

Analysis of Prostate Cancer Short-Term Cultures Using Molecular Cytogenetic Methods

NCT00022919

COMPLETED Phase 1

Gene Transfer Therapy for Severe Combined Immunodeficieny Disease (SCID) Due to Adenosine Deaminase (ADA) Deficiency

NCT00018018

COMPLETED

Influences on Female Adolescents' Decisions Regarding Testing for Carrier Status of XSCID

NCT00006335

COMPLETED Phase 1

Gene Therapy and Ganciclovir in Treating Patients With Stage IV Melanoma

NCT00005057

COMPLETED

Study of the Experiences and Needs of Parents Continuing a Pregnancy Following a Prenatal Diagnosis of Holopresencephaly

NCT00005016

COMPLETED

Study of Heritable Connective Tissue Disorders

NCT00001641

COMPLETED

Evaluation of Patients With Unresolved Chromosome Abnormalities

NCT00001639

COMPLETED Phase 1

Twins Study of Gene Therapy for HIV Infection

NCT00001535

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.

Related

Data sourced from official U.S. government datasets. See our methodology for details. Retrieved and formatted by PlainTrial Editorial