Current Clinical Studies

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.

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.

Featured Clinical Studies

ADHD Genetic Research Study

Study of Skin Microflora in Children with Atopic Dermatitis | NHGRI

Atopic Dermatitis Study

Caregiving Study

CLINSEQ®

COVIDCode Study

Gaucher Disease Clinical Studies at NIH

GENE-FORECAST® Study

GNE Myopathy

Genomic Services Research Program (GSRP)

Insights into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study | NHGRI

INSIGHTS Study

IDENTIFY Study

Clinical and Basic Investigations of Methylmalonic Acidemia Study | NHGRI

Methylmalonic Acidemia (MMA) Study

NIH RUNX1-FPD Clinical Research Study

NIH Undiagnosed Diseases Program (UDP)

Metabolism, Infection and Immunity (MINI) Section

The MINI section aims to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease.

Acute Infection in Mitochondrial Disease

Household Viral Exposure in Children with Mitochondrial Disease

Metabolism, Infection and Immunity (MINI) Study

Post COVID-19 Vaccine Registry

Other 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
Asthma	New Approaches for Empowering Studies of Asthma in Populations of African Descent
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
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
Gaucher's Disease	Genetic Studies of Lysosomal Storage Disorders
Genetic Variation	Physicians' Understanding of Human Genetic Variation
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
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 Disability	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
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
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

Other 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
Asthma	New Approaches for Empowering Studies of Asthma in Populations of African Descent
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
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
Gaucher's Disease	Genetic Studies of Lysosomal Storage Disorders
Genetic Variation	Physicians' Understanding of Human Genetic Variation
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
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 Disability	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
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
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

Last updated: January 12, 2025