National Human Genome Research Institute

🇺🇸United States

Country: 🇺🇸United States

Ownership: Private, Subsidiary

Established: 1989-01-01

Employees: 251

Market Cap: -

Website: https://www.genome.gov

Clinical Trials

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

Phase 1

Recruiting

Conditions: Lysosomal Diseases
Gangliosidosis
GM1

Interventions: Biological: AAV9-GLB1
Procedure: Abdominal ultrasound
Drug: Rituximab
Drug: Sirolimus
Drug: Methylprednisolone
Drug: Prednisone
Diagnostic Test: Audiology assessment with ABR
Diagnostic Test: Bone density scan (DEXA)
Diagnostic Test: Electrocardiogram (EKG)
Diagnostic Test: Echocardiogram
Other: Electroencephalogram (EEG) awake and extended overnight
Diagnostic Test: Laboratory tests
Procedure: Lumbar puncture
Procedure: Brain MRI/MRS/fMRI
Behavioral: Neurocognitive testing
Other: Neurology exam
Behavioral: PICC or other Central line placement
Procedure: Skeletal survey
Procedure: Skin biopsy
Procedure: Speech and modified barium swallow study
Procedure: Ophthalmology exam

First Posted Date: 2019-05-16

Last Posted Date: 2025-04-30

Lead Sponsor: National Human Genome Research Institute (NHGRI)

Target Recruit Count: 54

Registration Number: NCT03952637

Locations: 🇺🇸
National Institutes of Health Clinical Center, Bethesda, Maryland, United States

New Approaches for Empowering Studies of Asthma in Populations of African Descent

Completed

Conditions: Asthma

First Posted Date: 2019-05-06

Last Posted Date: 2025-05-20

Lead Sponsor: National Human Genome Research Institute (NHGRI)

Target Recruit Count: 83

Registration Number: NCT03937804

Locations: 🇺🇸
National Institutes of Health Clinical Center, Bethesda, Maryland, United States

Longitudinal Studies of Patient With FPDMM

Recruiting

Conditions: Rare Diseases
Inherited Hematological Diseases
FPDMM

First Posted Date: 2019-02-26

Last Posted Date: 2025-05-06

Lead Sponsor: National Human Genome Research Institute (NHGRI)

Target Recruit Count: 1000

Registration Number: NCT03854318

Locations: 🇺🇸
National Institutes of Health Clinical Center, Bethesda, Maryland, United States

Reverse Phenotyping Core

Conditions: Harboring of Unexpected Genetic Variant

First Posted Date: 2018-08-15

Last Posted Date: 2025-03-27

Lead Sponsor: National Human Genome Research Institute (NHGRI)

Target Recruit Count: 1000

Registration Number: NCT03632239

Locations: 🇺🇸
National Institutes of Health Clinical Center, Bethesda, Maryland, United States

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

Completed

Conditions: Undiagnosed Disease

First Posted Date: 2018-07-30

Last Posted Date: 2020-05-11

Lead Sponsor: National Human Genome Research Institute (NHGRI)

Target Recruit Count: 26

Registration Number: NCT03605004

Locations: 🇺🇸
Johns Hopkins School of Public Health, Baltimore, Maryland, United States
🇺🇸
Kennedy Krieger Institute, Baltimore, Maryland, United States

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

Completed

Conditions: Autosomal Recessive Hypophosphatemic Rickets Type2
Generalized Arterial Calcification of Infancy

First Posted Date: 2018-03-27

Last Posted Date: 2025-05-11

Lead Sponsor: National Human Genome Research Institute (NHGRI)

Target Recruit Count: 48

Registration Number: NCT03478839

Locations: 🇺🇸
National Institutes of Health Clinical Center, Bethesda, Maryland, United States

Is it Feasible?: Self-Affirmation for Hereditary Breast and Ovarian Cancer Genetic Counseling

Not Applicable

Completed

Conditions: Breast Cancer

Interventions: Behavioral: Self Affirmation (SA)
Behavioral: Control

First Posted Date: 2017-07-21

Last Posted Date: 2024-05-29

Lead Sponsor: National Human Genome Research Institute (NHGRI)

Target Recruit Count: 64

Registration Number: NCT03225170

Locations: 🇺🇸
St. Luke's Health System, Kansas City, Missouri, United States

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

Completed

Conditions: Sickle Cell Disease

First Posted Date: 2017-05-30

Last Posted Date: 2021-02-09

Lead Sponsor: National Human Genome Research Institute (NHGRI)

Target Recruit Count: 109

Registration Number: NCT03167450

Locations: 🇺🇸
National Human Genome Research Institute (NHGRI), Bethesda, Maryland, United States

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

Completed

Conditions: Pregnant

First Posted Date: 2017-04-10

Last Posted Date: 2019-04-22

Lead Sponsor: National Human Genome Research Institute (NHGRI)

Target Recruit Count: 553

Registration Number: NCT03105492

Locations: 🇺🇸
INOVA Fairfax Hospital, Falls Church, Virginia, United States

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

Recruiting

Conditions: Metabolic Disease
Propionic Acidemia
Organic Acidemia

First Posted Date: 2016-09-07

Last Posted Date: 2025-04-23

Lead Sponsor: National Human Genome Research Institute (NHGRI)

Target Recruit Count: 1045

Registration Number: NCT02890342

Locations: 🇺🇸
National Institutes of Health Clinical Center, Bethesda, Maryland, United States
🇺🇸
Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States

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