Clinical Research
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Clinical Research FAQ
Information for patients and families.

NHGRI Institutional Review Board (IRB)
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Current NHGRI Clinical Studies

Clinical studies give us a better understanding of how genes can cause or influence diseases. NHGRI researchers are working with patients, and with families with a history of inherited diseases, to learn more about the genetic components of common and rare disorders, and to develop new and more effective tests and treatments.

Deciding whether to participate in a clinical study is an important and personal process. Some reasons people choose to participate include:

  • Participants in clinical studies help current and future generations. Through these studies, researchers develop new diagnostic tests, more effective treatments, and better ways of managing diseases with genetic components.

  • Participants in studies are actively involved in understanding their disorder and current research.

  • Participants in some studies gain access to new tests and treatments before they are widely available.

The following are current clinical studies conducted by NHGRI researchers. For eligibility requirements and contact information, visit the study on clinicaltrials.gov.

Condition Study
[@ clinicaltrials.gov]		 Recruiting
Abnormal Platelet Vesicles Study of Megakaryocytes from Patients with Abnormal Platelet Vesicles Yes
Albinism Clinical and Basic Investigations into Hermansky-Pudlak Syndrome Yes
Albinism Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Yes
Alkaptonuria Study of Alkaptonuria Yes
Amino Acid Metabolism Clinical and Laboratory Study of Methylmalonic Acidemia Yes
Atopic Dermatitis Study of Skin Microflora in Children with Atopic Dermatitis: Eczema Yes
Attention Deficit Hyperactivity Disorder Attention Deficit Hyperactivity Disorder (ADHD) Study Yes
Attention Deficit Disorder with Hyperactivity Genetic Analysis of Attention Deficit Hyperactivity Disorder (ADHD) Yes
Autoimmune Disease Study of Autoimmune Lymphoproliferative Syndrome (ALPS) Yes
Autosomal Recessive Evaluation of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Firbrosis Yes
Bardet-Biedl Syndrome Genetics and Clinical Characteristics of Bardet-Biedl Syndrome Yes
Birth Defects Clinical and Genetic Studies of VACTERL Association Yes
Blood Coagulation Disorders Study of Megakaryocytes from Patients with Abnormal Platelet Vesicles Yes
Brain Disorders A Study of the Genetic Analysis of Brain Disorders Yes
Breast Cancer Cancer Genetics CD-ROM for Hispanics Yes
Cancer Reactions to Disease Risk Information Yes
Cancer Genetics Exploratory Data Analysis for Disease Pedigrees and Cancer Genetics Yes
Cardiovascular Disease Risk Communication Within Mexican-American Families Yes
Cataracts Family Studies of Eye Traits No
Chediak-Higashi Syndrome Study of Chediak-Higashi Syndrome Yes
ClinSeq ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study Yes
Chromosome Abnormalities Natural History Study of Smith-Magenis Syndrome Yes
Colonic Neoplasm Outcomes in Education and Counseling for HNPCC Testing Yes
Colon Cancer Risk Communication Within Mexican-American Families Yes
Colon Cancer Study of the Results of Education and Counseling for Persons Undergoing Genetic Testing for Hereditary Nonpolyposis Colon Cancer Yes
Congenital Bleeding Disorders Study of Megakaryocytes from Patients with Abnormal Platelet Vesicles Yes
Coronary Artery Calcification ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study Yes
Craniosynostosis Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) Yes
Cultural Diversity Cultural Congruence in International Genetics Research: Perceptions of Opportunities and Challenges Among Researchers Yes
Cystinosis Use of Cysteamine in the Treatment of Cystinosis Yes
Diabetes Risk Communication Within Mexican-American Families Yes
Diabetes The Roles of Trust and Respect in Patient Reactions to Race-Based and Personalized Medicine Vignettes: An Experimental Study Yes
Diabetes Mellitus Mapping Genes for Non-Insulin Dependent Diabetes Mellitus Yes
Diabetes Type 2 Genetics of Type 2 Diabetes Among Han Chinese Yes
Eczema Studies of Skin Microbes in Healthy People and in People With Skin Conditions Yes
Eczema Study of Skin Microflora in Children with Atopic Dermatitis: Eczema Yes
Epilepsy Phenotype and Etiology of Pallister-Hall Syndrome Yes
Gaucher's Disease Genetic Studies of Lysosomal Storage Disorders Yes
Gaucher's Disease Positron Emission Tomography (PET) Imaging in People With Gaucher Mutations Yes
Genetic Disease Genetic Studies in the Amish and Mennonites Yes
Genetic Linkage Genetic Analysis of Gray Platelet Syndrome Yes
Gray Platelet Syndrome Genetic Analysis of Gray Platelet Syndrome Yes
Growth Disorder Study of Proteus Syndrome and Related Congenital Disorders Yes
Hamartoma Phenotype and Etiology of Pallister-Hall Syndrome Yes
Healthy Individuals Patient Provider Communication and Interaction in a Virtual Clinical Setting Yes
Healthy Individuals Genetic Analysis of Immune Disorders Yes
Healthy Individuals PET Scanning in Parkinson's Disease Yes
Healthy Individuals Study of Autoimmune Lymphoproliferative Syndrome (ALPS) Yes
Hereditary Neoplastic Syndrome Study of the Results of Education and Counseling for Persons Undergoing Genetic Testing for Hereditary Nonpolyposis Colon Cancer Yes
Hermansky-Pudlak Syndrome Clinical and Basic Investigations into Hermansky-Pudlak Syndrome Yes
Hermansky-Pudlak Syndrome Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Yes
Hermansky-Pudlak Syndrome Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Yes
Hermansky-Pudlak Syndrome Study of Megakaryocytes from Patients with Abnormal Platelet Vesicles Yes
Holoprosencephaly Clinical and Genetic Studies on Holoprosencephaly Yes
Immunologic Deficiency Syndrome Genetic Analysis of Immune Disorders Yes
Immunologic Deficiency Syndrome Molecular and Clinical Studies of Primary Immunodeficiency Diseases Yes
Inborn Errors of Metabolism Clinical and Laboratory Study of Methylmalonic Acidemia Yes
Inborn Errors of Metabolism Diagnosis and Treatment of Patients With Inborn Errors of Metabolism Yes
Inborn Errors of Metabolism Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Yes
Intestinal Disease Clinical and Basic Investigations into Hermansky-Pudlak Syndrome Yes
Job's Syndrome Genetic Analysis of Immune Disorders Yes
Kidney Disease Clinical and Basic Investigations into Hermansky-Pudlak Syndrome Yes
Kidney Disease, Polycystic Evaluation of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Firbrosis Yes
Leishmaniasis Immunogenetics of Visceral Leishmaniasis Yes
Leukoodystrophies Leukodystrophies of Unknown Cause Yes
Lung Cancer Genetic Epidemiology of Lung Cancer Yes
Lysosomal Storage Disorders Genetic Studies of Lysosomal Storage Disorders Yes
Medical Sequencing ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study Yes
Mental Retardation Study of Proteus Syndrome and Related Congenital Disorders Yes
Methylmalonic Acidemia Clinical and Laboratory Study of Methylmalonic Acidemia Yes
Muenke Syndrome Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) Yes
Multiple Abnormalies Phenotype and Etiology of Pallister-Hall Syndrome Yes
Multiple Abnormalies Study of Proteus Syndrome and Related Congenital Disorders Yes
Myelofibrosis Genetic Analysis of Gray Platelet Syndrome Yes
Myocardial Disease Clinical and Basic Investigations into Hermansky-Pudlak Syndrome Yes
Neurofibromatosis Study of Disease Severity in Adults with Neurofibromatosis Type 1 (NF1) Yes
Neurofibromatosis The Study of Neurofibroma Growth in Adults with Neurofibromatosis Type 1 (NF1) Yes
Oculocutaneous Albinism Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Yes
Oral Clefts Genetic Analysis of Hereditary Non-Syndromic Oral Clefts Yes
Orofacial Cleft Defects Genetic Analysis of Neural Tube and Orofacial Cleft Defects in the Irish Population No
Oral-Facial-Digital Syndromes Oral-Facial-Digital Syndromes (OFDS) Research Study Yes
Pallister-Hall Syndrome Phenotype and Etiology of Pallister-Hall Syndrome Yes
Parkinson's Disease PET Scanning in Parkinson's Disease Yes
Platelet Storage Pool Deficiency Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Yes
Polycystic Kidney Evaluation of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis Yes
Polydactyly Polydactyly Research Study Yes
Pregnancy Informed Choice Regarding Invasive Prenatal Testing Yes
Proteus Syndrome Study of Proteus Syndrome and Related Congenital Disorders Yes
Pulmonary Fibrosis Clinical and Basic Investigations into Hermansky-Pudlak Syndrome Yes
Pulmonary Fibrosis Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Yes
Pulmonary Fibrosis Specimen Procurement From People With Pulmonary Fibrosis Yes
Rectal Cancer Study of the Results of Education and Counseling for Persons Undergoing Genetic Testing for Hereditary Nonpolyposis Colon Cancer Yes
Rett Syndrome The Role of Family Functioning in Adaptation to Being a Caregiver of an Individual With Rett Syndrome Yes
Severe Combined Immunodeficiency Genetic Analysis of Immune Disorders Yes
Severe Combined Immunodeficiency Gene Transfer Therapy for Severe Combined Immunodeficieny Disease (SCID) due to Adenosine Deaminase (ADA) Deficiency Yes
Smith Magenis Syndrome Natural History Study of Smith-Magenis Syndrome Yes
Smith Magenis Syndrome Treatment Strategies for Children With Smith-Magenis Syndrome No
Syndactyly Phenotype and Etiology of Pallister-Hall Syndrome Yes
Wiskott-Aldrich Syndrome Molecular and Clinical Studies of Primary Immunodeficiency Diseases Yes

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Last Updated: November 19, 2009