National Human Genome Research Institute (nhgri)

This study tests a one-time 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…

This study follows 330 people with cystinosis, a rare inherited disease that causes kidney failure and growth problems. The drug cysteamine helps lower harmful cystine buildup in cells. Researchers aim to track long-term effects, spot new complications, and gather genetic data.

This study tests whether the drug miransertib can safely slow or stop the abnormal tissue growth in people with Proteus syndrome, a rare condition that begins in early childhood. About 45 participants aged 3 and older will take a daily pill for up to 4 years, with regular checkup…

This study is testing whether an oral powder called ManNAc can help people with FSGS, a disease that causes kidney scarring. Thirty adults with FSGS will take the powder dissolved in water twice daily for 14 weeks. Researchers will check if it safely reduces protein in the urine,…

This study tests whether a new software called Motion Reset can prevent or reduce cybersickness—symptoms like nausea, dizziness, and headache—in healthy adults using virtual reality. About 150 volunteers aged 18 to 60 will be split into three groups: one using the anti-sickness s…

This study gathers medical information, including blood samples, imaging, and heart tests, from up to 1,250 people who have or are suspected of having a genetic condition, as well as their relatives. The goal is to use advanced computer methods to analyze this data and develop be…

This study is for people who have severe, unexplained symptoms that doctors haven't been able to diagnose. Researchers will use advanced genetic testing and detailed medical exams to try to find the cause. The goal is to give patients and their families answers and improve care f…

This study aims to learn more about Proteus syndrome, a rare condition causing abnormal growth of bones, skin, and other tissues. Researchers will examine up to 1,500 participants to find the genetic causes and track how the disease changes over time. Participants undergo physica…

This study aims to better understand alkaptonuria, a rare genetic disease that causes a pigment to build up in bones and tissues, leading to arthritis, fractures, and other problems. Researchers will evaluate 300 patients aged 2 and older every 2 to 3 years using modern medical t…

This study aims to find the genetic causes of rare or unusual 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 the children and their family members …

This study looks at how infections affect people with mitochondrial disease, a rare genetic disorder that can cause muscle weakness and developmental delays. Researchers will collect blood samples and health data from 400 participants and their family members to find immune patte…

This study follows people with propionic acidemia (PA), a rare metabolic disorder, to learn how the disease affects the body over years. Participants aged 2 and older visit the clinic annually for tests like blood draws, heart checks, and brain scans. The goal is to better unders…

This study looks at how infections and the immune system interact in people with mitochondrial disease, a group of energy-production disorders. Researchers will evaluate up to 500 participants through blood tests, imaging, and exams over 3-5 days at the NIH. No new treatments are…

This study aims to uncover the genetic and lifestyle factors that contribute to type 2 diabetes in African populations, particularly the Yoruba people in Nigeria. Researchers will compare 300 people with diabetes to 300 without, using blood samples and health questionnaires. The …

This study aims to learn more about methylmalonic acidemia (MMA), a rare genetic disorder that affects how the body processes certain proteins and fats. Researchers will observe up to 2,275 participants over time, using tests like blood draws, imaging, and developmental assessmen…

This study looks at people who have a gene variant (called a secondary finding) found during genetic testing. Researchers want to learn how these variants affect health and how people understand and share their results. Up to 5,000 participants will complete surveys, phone interv…

This study aims to diagnose and treat people with certain genetic disorders, called inborn errors of metabolism. Researchers hope to learn more about these conditions and provide access to research. Up to 4,000 participants aged 1 month or older with known or suspected genetic di…

This study aims to find gene changes that cause autoimmune diseases in people native to Peru. Researchers will collect blood, urine, and stool samples from 300 adults with conditions like lupus or rheumatoid arthritis, plus their family members and healthy volunteers. The goal is…

This study aims to learn more about Chediak-Higashi syndrome, a rare genetic disorder that affects the immune system, bleeding, and skin color. Researchers will observe up to 60 patients over time, collecting medical history, blood samples, and genetic information. The goal is to…

This study aims to find the genes that cause high blood pressure in children and teens. Researchers will collect blood, urine, and other samples from 2300 people with or without the condition over up to 10 years. No treatments are tested; the goal is to understand the genetic cau…

This study aims to discover the genetic causes of rare inherited diseases that have been difficult to diagnose with standard methods. Researchers will use advanced genome sequencing to analyze DNA from up to 2000 affected individuals and their family members. The goal is to impro…

This study aims to learn more about rare disorders that affect how the body processes certain chemicals called purines and pyrimidines. These conditions can cause problems in the brain, blood, kidneys, and immune system, ranging from no symptoms to severe illness. Researchers wil…

This study follows people with rare genetic conditions like GM1 and GM2 gangliosidosis to understand how these diseases progress. Researchers will collect data from up to 200 participants through regular check-ups, surveys, and lab tests. The goal is to find biological markers th…

This study looks at pregnant women who had unusual results from a standard prenatal blood test (NIPT) that suggested a possible health issue in the mother, not the baby. Researchers want to understand if these test results can help detect cancer early. Participants will have imag…

This study follows people of any age who have or may have a RUNX1 gene variant, which can cause bleeding problems and increase the risk of blood cancers. Researchers aim to learn more about these conditions to improve diagnosis, monitoring, and future treatments. Participants pro…

This study looks at how being an unpaid caregiver for someone with a long-term illness affects your health and well-being over time. Researchers will follow about 2,800 adult caregivers for up to 5 years using surveys, phone interviews, and diaries. The goal is to understand the …

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 transfusions, some who reacted and some who did not. The goal is to…

This study looks at the tiny organisms living on human skin, like bacteria and fungi, to understand how they affect health and eczema. Researchers will compare healthy volunteers and people with moderate to severe eczema, aged 2 to 40. Participants provide skin swabs, scrapings, …

This study aims to better understand Congenital Disorders of Glycosylation (CDG), rare conditions where the body cannot properly attach sugar chains to proteins and fats. Researchers will examine up to 200 people with known or suspected CDG, including family members, using medica…

This study aims to learn more about the genes and body processes behind autoinflammatory diseases, which cause repeated fevers and inflammation. Researchers will study up to 5,000 people, including patients with conditions like Familial Mediterranean Fever, their relatives, and h…

This study aims to learn more about Hermansky-Pudlak Syndrome (HPS), a rare inherited disease that causes light skin and hair, bleeding problems, and can lead to deadly lung scarring. Researchers will evaluate up to 600 patients of all backgrounds to track the disease's course an…