NIH Clinical Research Studies Listed By Institute of the Principal Investigator

National Human Genome Research Institute (NHGRI)

58 Protocols (44 Active Accrual of new subjects, 14 Follow-up of previously enrolled subjects)

Active Accrual, Protocols Recruiting New Patients 
* 13-HG-0053:
The NIH Mini Study: Metabolism, Infection and Immunity in Inborn Errors of Metabolism

* 12-HG-0207:
A Phase 1 Randomized, Placebo-Controlled, Double-Blind, Escalating Single-Dose Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of ManNAc in Subjects with GNE myopathy or Hereditary Inclusion Body Myopathy (HIBM)

* 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 Y Chromosome Variants

* 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

* 12-HG-0053:
International Randomized, Double-Blind, Placebo-Controlled, Phase 3 Study of the Efficacy and Safety of KIACTA in Preventing Renal Function Decline in Patients With AA Amyloidosis

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

* 11-HG-0218:
A Natural History Study of Patients with Hereditary Inclusion Body Myopathy (HIBM)

* 11-HG-0217:
The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity

* 11-HG-0207:
Clinical and Basic 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: Congenital Malformations

* 10-HG-0151:
Quality of Life and Neuropsychiatric Sequelae in Patients Treated with Gene Therapy for ADA-SCID and in their Parents

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

* 09-HG-0128:
Leukodystrophies of Unknown Cause

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

* 08-HG-0224:
Clinical and Genetic Studies of VACTERL Association

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

* 07-HG-0076:
A Phase One Treatment Trial of the Circadian Sleep Disturbance in Smith-Magenis Syndrome (SMS)

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

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

* 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-0123:
Bardet-Biedl Syndrome: Phenotype and Metabolic Characteristics

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

* 03-HG-0313:
Genetic Analysis of Gray Platelet Syndrome

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

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

* 01-HG-0189:
Treatment of SCID due to ADA Deficiency with Autologous Cord Blood or Bone Marrow CD34+ Cells Transduced with a Human ADA Gene

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

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

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

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

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

* 94-HG-0193:
Genetic and Clinical Studies of Congenital Anomaly Syndromes

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

* 94-HG-0105:
Genetics and Pathophysiology of Familial Mediterranean Fever and Related 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 

* 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

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

* 05-HG-0236:
Pilot Study of the Use of Intravenous Immune Globulin in Hereditary Inclusion Body Myopathy

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

* 05-HG-0076:
Long-Term Clinical Trial of Nitisinone in Alkaptonuria

* 05-HG-0004:
Clinical Investigations into Hutchison-Gilford Progeria Syndrome

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

* 98-HG-0124:
Genetics of Rheumatoid Arthritis: The North American Rheumatoid Arthritis Consortium

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

* 97-HG-0085:
Therapeutic Clinical Trial of Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome

* 95-HG-0165:
Outcomes of Education and Counseling for HNPCC / Lynch Syndrome Testing

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

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