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Clinical Research

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
Albinism Clinical and Basic Investigations into Hermansky-Pudlak Syndrome Yes
Albinism Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism Yes
Alkaptonuria Study of Alkaptonuria Yes
Alstrom Syndrome Clinical and Molecular Investigations into Ciliopathies Yes
Amino Acid Metabolism Clinical and Laboratory Study of Methylmalonic Acidemia Yes
Ancestry-related Genomic Variation in African-Americans GENE-FORECAST® 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)  No
Autosomal Recessive Evaluation of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Firbrosis Yes
Bardet-Biedl Syndrome Clinical and Molecular Investigations into Ciliopathies Yes
Brain Disorders A Study of the Genetic Analysis of Brain Disorders Yes
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
Ciliopathies Clinical and Molecular Investigations into Ciliopathies Yes
Congenital Hepatic Fibrosis Clinical and Molecular Investigations into Ciliopathies 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
Cystinosis Use of Cysteamine in the Treatment of Cystinosis Yes
Diabetes Mellitus Mapping Genes for Non-Insulin Dependent Diabetes Mellitus 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
Fragile X Syndrome Fragile X Syndrome Clinical Trials: Expectations, Hope and Decision Making of Parents New Yes
Gaucher's Disease Genetic Studies of Lysosomal Storage Disorders Yes
Genetic Variation Physicians' Understanding of Human Genetic Variation Yes
Growth Disorder Study of Proteus Syndrome and Related Congenital Disorders 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
Hermansky-Pudlak Syndrome Clinical and Basic Investigations into Hermansky-Pudlak Syndrome 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 The NIH MINI Study: Metabolism, Infection and Immunity in Inborn Errors of Metabolism Yes
Intestinal Disease Clinical and Basic Investigations into Hermansky-Pudlak Syndrome Yes
Jeune Syndrome Clinical and Molecular Investigations into Ciliopathies Yes
Job's Syndrome Genetic Analysis of Immune Disorders Yes
Joubert Syndrome Clinical and Molecular Investigations into Ciliopathies 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
Leukoodystrophies Leukodystrophies of Unknown Cause Yes
Leukoodystrophy The Nosology and Etiology of Leukodystrophies of Unknown Causes 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 Congenital Anomaly Syndromes Whole Genome Medical Sequencing for Genome Discovery Yes
Myocardial Disease Clinical and Basic Investigations into Hermansky-Pudlak Syndrome Yes
Nephronophthisis Clinical and Molecular Investigations into Ciliopathies Yes
Neuropathy Genetics of Type 2 Diabetes in West Africans Yes
Oral Clefts Genetic Analysis of Hereditary Non-Syndromic Oral Clefts Yes
Oral-Facial-Digital Syndrome Oral-Facial-Digital Syndromes (OFDS) Research Study Yes
Oral-Facial-Digital Syndromes Clinical and Molecular Investigations into Ciliopathies Yes
Ovarian Health Primary Ovarian Insufficiency Yes
Parkinson's Disease PET Scanning in Parkinson's Disease Yes
Polycystic Kidney Evaluation of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis Yes
Polycystic Kidney Clinical and Molecular Investigations into Ciliopathies Yes
Polydactyly Polydactyly Research Study Yes
Primary Ovarian Insufficiency Primary Ovarian Insufficiency Yes
Proteus Syndrome Study of Proteus Syndrome and Related Congenital Disorders Yes
Pulmonary Fibrosis Specimen Procurement From People With Pulmonary Fibrosis Yes
Severe Combined Immunodeficiency Genetic Analysis of Immune Disorders Yes
Sickle Cell Disease Insights Into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS Study) Yes
Sickle Cell Disease Sharing Family Health Information About Sickle Cell Disease and Sickle Cell Trait Yes
Sickle Cell Trait Sharing Family Health Information About Sickle Cell Disease and Sickle Cell Trait Yes
Smith Magenis Syndrome Natural History Study of Smith-Magenis Syndrome Yes
Smith Magenis Syndrome Treatment Strategies for Children With Smith-Magenis Syndrome Yes
Wiskott-Aldrich Syndrome Molecular and Clinical Studies of Primary Immunodeficiency Diseases Yes

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Last Updated: June 28, 2016

On Other Sites:

ClinicalTrials.gov