National Human Genome Research Institute (NHGRI)s

National Human Genome Research Institute (NHGRI)

62 Protocols (43 Active Accrual of new subjects, 19 Follow-up of previously enrolled subjects)

Active Accrual, Protocols Recruiting New Patients 
* 19-HG-0101:
A Phase 1/2 Study of Intravenous Gene Transfer with an AAV9 Vector Expressing Human Beta-galactosidase in Type II GM1 Gangliosidosis

* 19-HG-0059:
Longitudinal Studies of Patient with FPDMM

* 18-HG-0129:
The Genomic Ascertainment Cohort (TGAC)

* 18-HG-0064:
Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2)

* 16-HG-0156:
The Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia

* 16-HG-0017:
Return of Primary and Secondary Findings from Genome Sequencing: Recipient Attitudes and Health Outcomes

* 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

* 14-HG-0055:
Study on Moebius Syndrome and Other Congenital Facial Weakness Disorders

* 14-HG-0048:
GENE-FORECASTSM: Genomics, Environmental Factors and Social Determinants of Cardiovascular Disease in African-Americans Study

* 13-HG-0199:
NIH Participation to USIDNET Registry

* 13-HG-0053:
The NIH Mini Study: Metabolism, INfection and Immunity in Inborn Errors of Metabolism

* 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

* 11-HG-0218:
A Natural History Study of Patients with GNE Myopathy

* 11-HG-0207:
Clinical and Pathophysiological Investigations Into Erdheim-Chester Disease

* 11-HG-0110:
Genetics of Obesity, Diabetes, and Heart Disease in African Diaspora Populations

* 11-HG-0093:
Personalized Genomic Research

* 10-HG-0076:
Parents Thoughts about Kids and Eating

* 10-HG-0065:
Whole Genome Medical Sequencing for Gene Discovery

* 09-HG-0035:
Clinical, Cellular, and Molecular Investigations into Oculocutaneous Albinism

* 08-HG-0122:
Patient-Provider Communication and Interaction in a Virtual Clinical Setting

* 08-HG-0059:
Studies of Skin Microflora in Healthy Individuals and Atopic Dermatitis Patients

* 07-HG-0002:
ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study

* 05-HG-0131:
Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)

* 04-HG-0211:
Procurement and Analysis of Specimens from Individuals with Pulmonary Fibrosis

* 04-HG-0127:
Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) and Related Disorders

* 04-HG-0093:
Clinical and Genetic Studies on Holoprosencephaly

* 03-HG-0264:
Clinical and Molecular Investigations Into Ciliopathies

* 02-HG-0107:
Investigation of Neurodegeneration in Glycosphingolipid Storage Disorders

* 01-HG-0109:
Natural History Study of the Clinical and Molecular Manifestations of Smith-Magenis Syndrome (SMS)

* 00-HG-0153:
Investigations into Chediak-Higashi Syndrome and Related Disorders

* 00-HG-0141:
Clinical, Biochemical, and Molecular Investigations into Alkaptonuria

* 98-HG-0249:
Genetic Analysis of Brain Disorders

* 95-HG-0193:
Clinical and Basic Investigations into Hermansky-Pudlak Syndrome

* 94-HG-0132:
The Phenotype and Etiology of Proteus Syndrome and Related Overgrowth Disorders

* 94-HG-0105:
Genetics and Pathophysiology of Autoinflammatory Disorders.

* 86-HG-0096:
Studies of Genetic Heterogeneity in Patients with Lysosomal Storage Disorders

* 78-HG-0093:
Natural History Study of the 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

Active Follow-up, Protocols NOT Recruiting New Patients 

* 19-HG-0092:
New Approaches for Empowering Studies of Asthma in Populations of African Decent

* 16-HG-0026:
New Technology and Child Health (nTech)

* 16-HG-0014:
Phase 1 Dose Finding Trial of ARQ 092 in Children and Adults with Proteus Syndrome

* 15-HG-0120:
Nonrandomized Open Label Pilot Study of Sirolimus Therapy for Segmental Overgrowth Caused by Somatic PI3K Activation

* 15-HG-0049:
Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol

* 13-HG-0171:
Randomized Trial of Consent Interventions for NIH Whole Exome and Whole Genome Sequencing Studies

* 13-HG-0158:
Patient Perspectives and Simulated Clinical Interactions

* 12-HG-0161:
Therapeutic Trial of EPI -743 In Patients with Disorders of Energy Utilization or Oxidation-Reduction

* 12-HG-0147:
Genetic Studies of Non-Alcoholic Fatty Liver Disease

* 11-HG-0238:
Weight Management Interactions in a Virtual Clinical Environment

* 09-HG-0009:
Participant Reactions to Disease Risk Information

* 06-HG-0134:
Natural History and Biology of Dermal Neurofibromas in Neurofibromatosis Type 1

* 06-HG-0055:
Functional Imaging in Subjects with Glucocerebrosidase Mutations

* 05-HG-0152:
Variation in Gene Expression in Neurofibromatosis Type 1

* 00-HG-0209:
Molecular and Clinical Studies of Primary Immunodeficiency Diseases

* 00-HG-0058:
Genetic Analysis of Attention Deficit Hyperactivity Disorder (ADHD)

* 99-HG-0056:
Pulmonary Fibrosis Associated with Rheumatoid Arthritis: Definition of the Natural History of Disease

* 97-HG-0192:
Genetic Studies in the Amish and Mennonites

* 95-HG-0158:
Genetic Analysis of Hereditary Prostate Cancer