NIH Clinical Research Studies Listed By Institute of the Principal Investigator

National Human Genome Research Institute (NHGRI)

50 Protocols (37 Active Accrual of new subjects, 13 Follow-up of previously enrolled subjects)

Active Accrual, Protocols Recruiting New Patients 
* 09-HG-0035:
Clinical, Cellular, and Molecular Investigation into Oculocutaneous Albinism

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

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

* 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

* 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:
Genetic and Clinical Studies of Congenital 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

Active Follow-up, Protocols NOT Recruiting New Patients 

* 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

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

* 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

Command Menu Bar

Search The Studies | Help | Questions |
Clinical Center Home | NIH Home

Clinical Center LogoNational Institutes of Health Clinical Center
Bethesda, Maryland 20892. Last update: 01/30/2009

Search The Studies Help Questions
Search The Studies Help Questions