National Human Genome Research Institute (NHGRI)s

National Human Genome Research Institute (NHGRI)

58 Protocols (35 Active Accrual of new subjects, 23 Follow-up of previously enrolled subjects)

 001625-HG:

Prospective Study of the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders

 000744-HG:

Development of Virtual Reality-based Interventions to Strengthen Cognitive Skillsets Related to Attention Deficit Hyperactivity Disorder (ADHD): A Pilot Phase I and Randomized Controlled Phase II Trial

 000547-HG:

Observational Study of Advanced Data Analytics in Genetic Conditions

 000213-HG:

Clinical and Laboratory Study of Rare Skeletal Disorders

 21-HG-0020:

Caregiving Networks Across Disease Context and the Life Course: A Comparative Longitudinal Study

 20-HG-0147:

An Observational Study of the Developing Brain, Impulsivity and Compulsivity.

 20-HG-0120:

Acute Infection in Mitochondrial Disease: An Observational Prospective Natural History Study of Metabolism, Infection and Immunity

 20-HG-0034:

A Multi-Cohort Phase 2 Dose-Escalation Study of MK-7075 (Miransertib) in Proteus Syndrome

 20-HG-0025:

A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study to Evaluate the Efficacy of ManNAc in Subjects with GNE Myopathy

 19-HG-0101:

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

 19-HG-0059:

Longitudinal Studies of Patients and Families with Familial Platelet Disorders with Associated Myeloid Malignancy (FPDMM) Caused by RUNX1 Germline Variants or FPDMM-Like Conditions

 19-C-0132:

Incidental Detection of Maternal Neoplasia Through Non-invasive Cell-Free DNA Analysis (IDENTIFY), a Natural History Study

 18-HG-0129:

Reverse Phenotyping Core (RPC)

 16-HG-0156:

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

 16-HG-0026:

New Technology and Child Health

 16-HG-0017:

Genomic Services Research Program

 15-HG-0130:

Clinical and Genetic Evaluation of Patients with Undiagnosed Disorders Through the Undiagnosed Diseases Network

 14-HG-0125:

Insights Into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers

 14-HG-0071:

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

 13-HG-0053:

The NIH Mini Study: Metabolism, INfection and Immunity in Inborn Errors of Mitochondrial Metabolism

 11-HG-0218:

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

 11-HG-0110:

Genetics of Obesity, Diabetes, and Heart Disease in African Diaspora Populations

 10-HG-0065:

Whole Genome Medical Sequencing for Gene Discovery

 08-HG-0059:

Studies of Skin Microflora in Healthy Individuals and Atopic Dermatitis Patients

 04-HG-0211:

Analysis of Specimens from Individuals with Pulmonary Fibrosis

 04-HG-0127:

Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) and Related Disorders

 02-HG-0107:

Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders

 00-HG-0153:

Investigations into Chediak-Higashi Syndrome and Related Disorders

 00-HG-0141:

Clinical, Biochemical, and Molecular Investigations into Alkaptonuria

 95-HG-0193:

Clinical and Basic Investigations into Hermansky-Pudlak Syndrome

 94-HG-0132:

The Phenotype and Etiology of Proteus Syndrome

 94-HG-0105:

An Exploratory Study of the Genetics, Pathophysiology, and Natural History of Autoinflammatory Diseases

 86-HG-0096:

Studies of Genetic Heterogeneity in Patients with Lysosomal Storage Disorders

 78-HG-0093:

Use of Cysteamine in the Treatment of Cystinosis

 76-HG-0238:

Diagnosis and Treatment of Patients with Inborn Errors of Metabolism or Other Genetic Disorders

 000577-HG:

Genomics, Environmental Factors and Social Determinants of Cardiovascular Disease in African Americans Study (GENEFORECAST): Prospective COVID-19 Natural History Study

 000070-HG:

Genomics, Environmental Factors and Social Determinants of Cardiovascular Disease in African-Americans Study(GENE-FORECAST): Sodium Intervention Trial (SIT)/GENE-FORECAST SIT

 20-HG-0156:

A Multicenter, Multinational, Randomized, Double-Blind, Placebo-Controlled Study to Assess The Efficacy, Pharmacodynamics, Pharmacokinetics, Safety, and Tolerability of Venglustat in Late-Onset GM2 Gangliosidosis (Tay-Sachs Disease And Sandhoff Disease)

 20-HG-0090:

Genetics of COVID-19 Susceptibility and Manifestations

 19-HG-0092:

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

 18-HG-0064:

A Natural History Study of Patients with Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2)

 15-HG-0049:

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

 14-HG-0055:

Study on Moebius Syndrome and Other Congenital Facial Weakness Disorders

 14-HG-0048:

Genomics, Environmental Factors and Social Determinants of Cardiovascular Disease in African-Americans Study (GENE-FORECAST)

 13-HG-0158:

Patient Perspectives and Simulated Clinical Interactions

 12-HG-0202:

The Neurobehavioral, Environmental and Genetic Factors Impacting the Clinical Course of Attention Deficit Hyperactivity Disorder

 12-HG-0181:

The Clinical Study of Patients with Sex Chromosome Variants

 12-HG-0023:

The Role of the Family Genetics Health Educator in Influencing Health Promoting Behaviors

 12-HG-0022:

Inherited Diseases, Caregiving, and Social Networks

 10-HG-0076:

Mothers' Thoughts about what their Children Eat

 09-HG-0009:

Participant Reactions to Disease Risk Information

 08-HG-0122:

Patient-Provider Communication and Interaction in a Virtual Clinical Setting

 07-HG-0002:

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

 06-HG-0055:

Functional Imaging in Subjects with Glucocerebrosidase Mutations

 01-HG-0109:

Natural History Study of the Clinical and Molecular Manifestations of Smith-Magenis Syndrome (SMS)

 00-HG-0209:

Molecular and Clinical Studies of Primary Immunodeficiency Diseases

 00-HG-0058:

Genetic Analysis of Attention Deficit Hyperactivity Disorder (ADHD)

 97-HG-0192:

Genetic Studies in the Amish and Mennonites