National Human Genome Research Institute (NHGRI)

47 Protocols (35 Active Accrual of new subjects, 12 Follow-up of previously enrolled subjects)

 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-0132:

Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome

 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-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

 05-HG-0131:

Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)

 04-HG-0226:

Investigations of Megakaryocytes from Patients with Abnormal Platelet Vesicles

 04-HG-0211:

Specimen Procurement 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 Investigations into the Kidney and Liver Disease in Autosomal Recessive Polycystic Kidney Disease/Congenital Hepatic Fibrosis and other Ciliopathies

 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)

 01-HG-0106:

National Human Genome Research Institute Training Protocol

 01-HG-0094:

Molecular Analysis of Microphthalmia/Anophthalmia and Related Disorders

 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

 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-0193:

Clinical and Basic Investigations into Hermansky-Pudlak Syndrome

 95-HG-0165:

Outcomes of Education and Counseling for HNPCC Testing

 95-HG-0158:

Genetic Analysis of Hereditary Prostate Cancer

 94-HG-0193:

Clinical and Genetic Studies of Cogenital Anomaly Syndromes

 94-HG-0132:

The Phenotype and Etiology of Proteus Syndrome

 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

 07-HG-0204:

Deliberation with and without Attention: Can We Enhance Informed Choices about Invasive Prenatal Testing? A Proof of Principle Study

 06-HG-0148:

Identity, Ancestry and Genetics: Patients' Perspectives

 06-HG-0143:

Using Virtual Reality to Test Communication Strategies for Genomic Concepts

 05-HG-0236:

Pilot Study of the Use of Intravenous Immune Globulin in Hereditary Inclusion Body Myopathy

 05-HG-0076:

Long-Term Clinical Trial of Nitisinone in Alkaptonuria

 05-HG-0004:

Clinical Investigations into Hutchison-Gilford Progeria Syndrome

 01-HG-0095:

Mutation Detection for Lowe Syndrome

 00-HG-0223:

Decisions of Female Adolescents about Carrier Testing in Families with X-Linked Severe Combined Immunodeficiency (XSCID)

 00-HG-0191:

Clinical, Molecular and Biochemical Characterization of Familial Encephalopathy with Neuroserpin Inclusion Bodies

 99-HG-0056:

Pulmonary Fibrosis Associated with Rheumatoid Arthritis: Definition of the Natural History of Disease

 97-HG-0173:

Gene Analysis in Parkinson's Disease

 97-HG-0078:

Genetic Analysis of Parkinson's Disease

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