Researchers at the National Human Genome Research Institute (NHGRI) are working with patients and families to better understand of how genes can cause or influence diseases and develop new and more effective diagnostics and treatments.

Value of 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.

Current Clinical Studies

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

Condition Study
Albinism Clinical and Basic Investigations into Hermansky-Pudlak Syndrome
Albinism Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism
Alkaptonuria Study of Alkaptonuria
Alstrom Syndrome Clinical and Molecular Investigations into Ciliopathies
Amino Acid Metabolism Clinical and Laboratory Study of Methylmalonic Acidemia
Ancestry-related Genomic Variation in African-Americans GENE-FORECAST®
Atopic Dermatitis Study of Skin Microflora in Children with Atopic Dermatitis: Eczema
Attention Deficit Hyperactivity Disorder Attention Deficit Hyperactivity Disorder (ADHD) Study
Attention Deficit Disorder with Hyperactivity Genetic Analysis of Attention Deficit Hyperactivity Disorder (ADHD)
Autosomal Recessive Evaluation of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Firbrosis
Bardet-Biedl Syndrome Clinical and Molecular Investigations into Ciliopathies
Brain Disorders A Study of the Genetic Analysis of Brain Disorders
Chediak-Higashi Syndrome Study of Chediak-Higashi Syndrome
ClinSeq ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study
Chromosome Abnormalities Natural History Study of Smith-Magenis Syndrome
Ciliopathies Clinical and Molecular Investigations into Ciliopathies
Congenital Hepatic Fibrosis Clinical and Molecular Investigations into Ciliopathies
Coronary Artery Calcification ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study
Craniosynostosis Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)
Cystinosis Use of Cysteamine in the Treatment of Cystinosis
Diabetes Mellitus Mapping Genes for Non-Insulin Dependent Diabetes Mellitus
Eczema Studies of Skin Microbes in Healthy People and in People With Skin Conditions
Eczema Study of Skin Microflora in Children with Atopic Dermatitis: Eczema
Gaucher's Disease Genetic Studies of Lysosomal Storage Disorders
Genetic Variation Physicians' Understanding of Human Genetic Variation
GNE Myopathy GNE Myopathy Clinical Studies at NIH
Growth Disorder Study of Proteus Syndrome and Related Congenital Disorders
Healthy Individuals Genetic Analysis of Immune Disorders
Healthy Individuals PET Scanning in Parkinson's Disease
Healthy Individuals Study of Autoimmune Lymphoproliferative Syndrome (ALPS)
Hermansky-Pudlak Syndrome Clinical and Basic Investigations into Hermansky-Pudlak Syndrome
Holoprosencephaly Clinical and Genetic Studies on Holoprosencephaly
Immunologic Deficiency Syndrome Genetic Analysis of Immune Disorders
Immunologic Deficiency Syndrome Molecular and Clinical Studies of Primary Immunodeficiency Diseases
Inborn Errors of Metabolism Clinical and Laboratory Study of Methylmalonic Acidemia
Inborn Errors of Metabolism Diagnosis and Treatment of Patients With Inborn Errors of Metabolism
Inborn Errors of Metabolism The NIH MINI Study: Metabolism, Infection and Immunity in Inborn Errors of Metabolism
Intestinal Disease Clinical and Basic Investigations into Hermansky-Pudlak Syndrome
Jeune Syndrome Clinical and Molecular Investigations into Ciliopathies
Job's Syndrome Genetic Analysis of Immune Disorders
Joubert Syndrome Clinical and Molecular Investigations into Ciliopathies
Kidney Disease Clinical and Basic Investigations into Hermansky-Pudlak Syndrome
Kidney Disease, Polycystic Evaluation of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Firbrosis
Leukoodystrophies Leukodystrophies of Unknown Cause
Leukoodystrophy The Nosology and Etiology of Leukodystrophies of Unknown Causes
Lung Cancer Genetic Epidemiology of Lung Cancer
Lysosomal Storage Disorders Genetic Studies of Lysosomal Storage Disorders
Medical Sequencing ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study
Mental Retardation Study of Proteus Syndrome and Related Congenital Disorders
Methylmalonic Acidemia Clinical and Laboratory Study of Methylmalonic Acidemia
Muenke Syndrome Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)
Multiple Congenital Anomaly Syndromes Whole Genome Medical Sequencing for Genome Discovery
Myocardial Disease Clinical and Basic Investigations into Hermansky-Pudlak Syndrome
Myopathy GNE Myopathy Clinical Studies at NIH
Nephronophthisis Clinical and Molecular Investigations into Ciliopathies
Neuropathy Genetics of Type 2 Diabetes in West Africans
Oral Clefts Genetic Analysis of Hereditary Non-Syndromic Oral Clefts
Oral-Facial-Digital Syndrome Oral-Facial-Digital Syndromes (OFDS) Research Study
Oral-Facial-Digital Syndromes Clinical and Molecular Investigations into Ciliopathies
Ovarian Health Primary Ovarian Insufficiency
Parkinson's Disease PET Scanning in Parkinson's Disease
Polycystic Kidney Evaluation of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis
Polycystic Kidney Clinical and Molecular Investigations into Ciliopathies
Primary Ovarian Insufficiency Primary Ovarian Insufficiency
Proteus Syndrome Study of Proteus Syndrome and Related Congenital Disorders
Pulmonary Fibrosis Specimen Procurement From People With Pulmonary Fibrosis
Severe Combined Immunodeficiency Genetic Analysis of Immune Disorders
Sickle Cell Disease Insights Into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS Study)
Smith Magenis Syndrome Natural History Study of Smith-Magenis Syndrome
Smith Magenis Syndrome Treatment Strategies for Children With Smith-Magenis Syndrome
Wiskott-Aldrich Syndrome Molecular and Clinical Studies of Primary Immunodeficiency Diseases