National Human Genome Research Institute
πΊπΈUnited States
- Country
- πΊπΈUnited States
- Ownership
- Private, Subsidiary
- Established
- 1989-01-01
- Employees
- 251
- Market Cap
- -
- Website
- https://www.genome.gov
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 DiseasesGangliosidosisGM1
- Interventions
- Procedure: Abdominal ultrasoundDiagnostic Test: Audiology assessment with ABRDiagnostic Test: Bone density scan (DEXA)Diagnostic Test: Electrocardiogram (EKG)Diagnostic Test: EchocardiogramOther: Electroencephalogram (EEG) awake and extended overnightDiagnostic Test: Laboratory testsProcedure: Lumbar punctureProcedure: Brain MRI/MRS/fMRIBehavioral: Neurocognitive testingOther: Neurology examBehavioral: PICC or other Central line placementProcedure: Skeletal surveyProcedure: Skin biopsyProcedure: Speech and modified barium swallow studyProcedure: 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
- πΊπΈ
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
- 2025-07-01
- Lead Sponsor
- National Human Genome Research Institute (NHGRI)
- Target Recruit Count
- 83
- Registration Number
- NCT03937804
- Locations
- πΊπΈ
National Institutes of Health Clinical Center, Bethesda, Maryland, United States
Longitudinal Studies of Patient With FPDMM
Recruiting
- Conditions
- Rare DiseasesInherited Hematological DiseasesFPDMM
- First Posted Date
- 2019-02-26
- Last Posted Date
- 2025-06-29
- Lead Sponsor
- National Human Genome Research Institute (NHGRI)
- Target Recruit Count
- 1000
- Registration Number
- NCT03854318
- Locations
- πΊπΈ
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
- πΊπΈ
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
- πΊπΈ
Johns Hopkins School of Public Health, Baltimore, Maryland, United States
πΊπΈKennedy 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 Type2Generalized Arterial Calcification of Infancy
- First Posted Date
- 2018-03-27
- Last Posted Date
- 2025-06-25
- Lead Sponsor
- National Human Genome Research Institute (NHGRI)
- Target Recruit Count
- 48
- Registration Number
- NCT03478839
- Locations
- πΊπΈ
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
- 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
- πΊπΈ
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
- πΊπΈ
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
- πΊπΈ
INOVA Fairfax Hospital, Falls Church, Virginia, United States
Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia
Recruiting
- Conditions
- Metabolic DiseasePropionic AcidemiaOrganic Acidemia
- First Posted Date
- 2016-09-07
- Last Posted Date
- 2025-06-29
- Lead Sponsor
- National Human Genome Research Institute (NHGRI)
- Target Recruit Count
- 1045
- Registration Number
- NCT02890342
- Locations
- πΊπΈ
National Institutes of Health Clinical Center, Bethesda, Maryland, United States
πΊπΈChildren's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States