National Human Genome Research Institute (nhgri)

This study tests a gene therapy for GM1 gangliosidosis, a fatal nerve disease with no current treatment. The therapy uses a harmless virus to deliver a working gene, helping the body produce an enzyme it lacks. Up to 54 children with Type I (ages 6-12 months) or Type II (ages 1-1…

This study tests a daily pill called miransertib in people with Proteus syndrome, a rare condition causing abnormal tissue growth. The goal is to see if the drug can safely slow or stop this overgrowth. About 45 participants aged 3 and older will take the drug for up to 4 years, …

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, find new complications, and support genetic testin…

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 looks at how infections impact people with mitochondrial disease, a group of disorders that affect energy production in cells. Researchers will evaluate participants' immune systems through blood tests, physical exams, and other assessments over time. The goal is to be…

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…

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 learn how these variants affect health and how people understand and share their results. Up to 5,000 participants will co…

This study aims to learn more about Proteus syndrome, a rare condition that causes abnormal growth of bones, skin, and other tissues. Researchers will examine up to 1,500 participants to understand the genetic causes and how the disease changes over time. The study involves medic…

This study aims to find the genetic causes of unusual or 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 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 information from 400 participants and their family members to understand…

This study aims to find the genes that cause high blood pressure in children and teens. Researchers will study 2300 people, including those with childhood-onset high blood pressure and their healthy relatives. Participants will have yearly checkups, blood and urine tests, and opt…

This study aims to understand how genetic changes contribute to autoimmune diseases in people native to Peru. Researchers will recruit 300 participants, including patients with conditions like lupus or rheumatoid arthritis, their family members, and healthy volunteers. Participan…

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 better understand congenital disorders of glycosylation (CDG), rare conditions where the body can't properly attach sugar chains to proteins and fats. Researchers will examine up to 200 people with known or suspected CDG, including family members, using medical…

This study aims to diagnose and treat people with inherited genetic disorders. Researchers will use standard medical tests to learn more about these conditions and provide care. Up to 4,000 participants of all ages with known or suspected genetic disorders can join. The main goal…

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

This study follows women who had unusual prenatal DNA test results that suggested a possible health problem in the mother, not the baby. Researchers want to learn if these results can predict cancer. Participants will have imaging, blood tests, and surveys, and may be followed fo…

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 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 up to 300 patients aged 2 and older with thorough medical tests every 2…

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 aged 1 month to 70 years over time, collecting medical information and blood samples. The goa…

This study is for people with severe, unexplained symptoms who have not received a diagnosis despite seeing many doctors. Researchers will use advanced genetic testing and thorough medical exams to try to find the cause. The goal is to give patients and their families answers and…

This study aims to learn more about the genes 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 medical histo…

This study aims to gather medical and genetic information from up to 1,250 people with known or suspected genetic conditions, as well as their relatives. Participants will undergo tests like blood draws, imaging, and heart exams over up to 4 days. The goal is to use advanced comp…

This study follows people of any age who have or may have a RUNX1 gene change, which can cause bleeding problems and increase the risk of blood cancers. Researchers will collect medical history, blood samples, and sometimes bone marrow over many years to learn how the condition d…

This study aims to discover the genetic causes of rare inherited diseases that are difficult to diagnose with current methods. Researchers will use genome sequencing to analyze the DNA of up to 2,000 participants, including affected individuals and their family members. The goal …

This study looks at the tiny organisms living on our skin—like bacteria and fungi—to see how they differ between healthy people and those with eczema (atopic dermatitis). Researchers will collect skin samples from 530 volunteers aged 2 to 50, including people with eczema and cert…

This study aims to learn more about methylmalonic acidemia (MMA), a rare genetic disorder that can cause serious health problems like kidney failure, strokes, and developmental delays. Researchers will observe up to 2,275 participants over time using blood tests, imaging, and oth…

This study follows up to 200 people with rare genetic conditions that cause nerve damage and brain decline. Researchers will track symptoms, collect blood and spinal fluid, and look for markers that show how the disease progresses. The goal is to better understand these disorders…

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 data. The goal is to…

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 people who have had these reactions with those who have not. The goal is to better understand…