National Human Genome Research Institute (nhgri)

This phase 2 trial tests an oral drug called ManNAc in 30 adults with primary focal segmental glomerulosclerosis (FSGS), a kidney disease that causes scarring and protein loss. Participants take ManNAc powder dissolved in water twice daily for 14 weeks. The study aims to see if t…

Cystinosis is a rare inherited disease that causes kidney failure and poor growth due to cystine buildup in cells. This study follows 330 patients taking cysteamine, a drug that lowers cystine levels, to track long-term effects, detect new complications, and support genetic resea…

This study tests a gene therapy for GM1 gangliosidosis, a fatal disorder that destroys nerve cells. The therapy uses a harmless virus to deliver a working gene, helping the body produce a missing enzyme. Up to 54 children with Type I (ages 6-12 months) or Type II (ages 1-12 years…

This study tests a new software called Motion Reset that may prevent or reduce cybersickness—symptoms like nausea, dizziness, and headache—when using virtual reality. Healthy adults aged 18 to 60 will try different VR experiences and then play a commercial VR game while reporting…

This observational study is gathering medical and genetic information from up to 1,250 people with known or suspected genetic conditions, as well as their relatives. Researchers will use advanced data analysis to find new insights into how genes cause disease. Participants may pr…

This study aims to learn more about the genetics and natural history of autoinflammatory diseases, which cause repeated fevers and inflammation. Researchers will study up to 5,000 people, including patients, their relatives, and healthy volunteers. Participants provide blood and …

This study aims to learn more about Hermansky-Pudlak Syndrome (HPS), a rare inherited disease that causes light skin/eye color, bleeding problems, and often deadly lung scarring. Researchers will follow 600 people with HPS and their family members to track how the disease progres…

This study aims to uncover genetic changes that cause autoimmune diseases in people native to Peru. Researchers will collect blood, urine, and stool samples from 300 participants, including patients with conditions like lupus and rheumatoid arthritis, their family members, and he…

This study aims to find genetic causes of rare diseases in children aged 2 to 18 who live outside the United States and have limited access to genetic testing. Researchers will collect blood, saliva, or cheek swab samples from affected children and their family members. The goal …

This study follows people with rare genetic disorders that cause harmful substances to build up in the body, leading to brain damage. Researchers will monitor up to 200 participants over time using exams, surveys, and lab tests. The goal is to better understand how these diseases…

This study follows people with propionic acidemia (PA), a rare metabolic disorder, to track how the disease affects the body over time. Researchers will collect medical history, blood, urine, and other samples, and perform imaging and heart tests during annual hospital visits. Th…

This study at the National Institutes of Health looks at how infections can worsen symptoms in people with mitochondrial disease, a group of disorders that affect energy production in cells. Researchers will evaluate participants' immune systems through blood tests, physical exam…

This study aims to learn more about methylmalonic acidemia (MMA) and related disorders by observing people with these conditions over time. Researchers will track complications, perform tests like blood draws and MRIs, and look for new genetic causes. The goal is to better unders…

This study follows 2,800 unpaid caregivers of people with chronic conditions like diabetes or inherited disorders. Researchers will survey and interview caregivers over up to 5 years to track changes in their health, stress, and social support. The goal is to understand how careg…

This study aims to understand the genetic and biological causes of Proteus syndrome, a rare condition causing abnormal growth of bones, skin, and other tissues. Researchers will follow up to 1,500 participants over time, using medical exams, imaging, and blood tests to track how …

This study follows people of all ages who have or may have a RUNX1 gene variant, which can cause bleeding problems and increase the risk of blood cancers. Researchers will collect medical history, blood samples, and bone marrow over many years to understand how the condition deve…

This study looks at the tiny organisms living on our skin—like bacteria and fungi—and how they might differ in people with eczema (atopic dermatitis). Researchers will collect skin samples from healthy volunteers and patients aged 2 to 40 with moderate to severe eczema, as well a…

This study aims to learn more about alkaptonuria, a rare genetic disease that causes a pigment to build up in bones and tissues, leading to arthritis and other problems. Researchers will evaluate 300 patients over several years using advanced medical tests. The goal is to better …

This study looks at people who have a gene variant (called a secondary finding) that was found during genetic testing for another reason. Researchers want to understand how these variants affect health, how people respond to the news, and whether they follow medical advice. Up to…

This study aims to identify the genetic causes of rare, undiagnosed disorders by using genome sequencing. Researchers will analyze the DNA of up to 2,000 participants, including affected individuals and their family members. The goal is to discover new disease-causing genes and i…

This study follows 400 people with mitochondrial disease and their household members to learn how infections affect them. Researchers will analyze blood samples and health records to find immune patterns linked to severe illness. The goal is to improve care and identify potential…

This study aims to diagnose people with severe, undiagnosed conditions that have baffled doctors. Up to 20,000 participants will undergo advanced genetic testing and clinical exams at multiple research centers. The goal is to provide answers, discover new diseases, and improve ca…

This study aims to learn more about Chediak-Higashi syndrome, a rare genetic disorder that causes light skin and hair, easy bruising, and frequent infections. Researchers will observe up to 60 patients over time, collecting clinical and genetic data to better understand the disea…

This study aims to find genes that cause high blood pressure starting in childhood. Researchers will follow 2,300 people aged 2 and older, including those with childhood-onset hypertension and their healthy relatives, for up to 10 years. Participants provide blood, urine, and che…

This study aims to find genetic differences that explain why some people with sickle cell disease develop immune reactions to blood transfusions. Researchers will compare the genes of 50 participants who have had reactions with those who have not. The goal is to identify specific…

This study aims to better understand and treat people with certain inherited metabolic or genetic disorders. Researchers will use standard medical tests like blood work and imaging to diagnose and care for participants, who may also join other related studies. The goal is to expa…

This study from the National Human Genome Research Institute aims to better understand Congenital Disorders of Glycosylation (CDG), a group of rare genetic conditions that affect how the body attaches sugars to proteins and fats. Researchers will examine up to 200 participants, i…

This study looks at pregnant women whose routine blood tests for the baby's DNA came back unusual or unclear. Researchers want to find out if these results can signal cancer in the mother. Participants will have imaging, lab tests, and surveys, and may be followed for up to 5 yea…

This study aims to learn more about rare disorders that affect how the body processes chemicals called pyrimidines and purines. These disorders can cause problems in the brain, blood, kidneys, and immune system, ranging from mild to life-threatening. Researchers will compare test…