GENETIC DISEASE

This study tests whether the antibiotic rifampin can safely lower high calcium levels in the blood and urine of people with a rare genetic mutation in the CYP24A1 gene. The condition can cause kidney stones and other problems. Sixty participants aged 6 months to 65 years will tak…

This trial tests whether an iPad loaded with a speech-generating app can help children aged 3-12 with rare genetic conditions who have very limited speech. Each of the 38 participants will use the device during therapy sessions and also receive usual care, in a crossover design. …

This study creates a large registry of people with Rett syndrome, a rare genetic disorder that causes severe intellectual and physical disabilities. Researchers will collect information from doctors and caregivers to understand how the disease progresses over time. The goal is to…

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 collects blood, urine, and skin samples from people with rare genetic diseases whose genetic cause is not yet known. The goal is to build a biobank that researchers can use to confirm whether certain gene variants are responsible for these diseases. By identifying new …

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 is for people with rare, undiagnosed genetic conditions that standard tests couldn't identify. Researchers will use whole genome sequencing of the patient and their parents, plus advanced lab work, to find new disease genes and provide a diagnosis. The goal is to give …

This study collects small samples of skin, blood, or urine from people with genetic diseases and healthy volunteers. Researchers will turn these samples into stem cells that can grow into any cell type, like neurons or heart cells. The goal is to develop reliable lab methods to s…

This study follows 500 children and adults with rare genetic disorders called type I interferonopathies, which cause severe inflammation and neurological problems. Researchers will track how the disease progresses over time and look for biological markers to improve diagnosis and…

This study collects data from 500 children with severe, early-onset obesity to find genetic causes. Researchers will track how many kids have genetic variants linked to obesity and monitor changes in their BMI over time. The goal is to better understand the role of genetics in se…

This study looks back at genetic test results from about 12,000 people with rare diseases or family cancer syndromes. Researchers want to see how often exome or genome sequencing finds a diagnosis compared to older methods. The goal is to improve future testing and close diagnost…

This study uses a special camera (adaptive optics) to take detailed pictures of the back of the eye in people with inherited retinal diseases. Researchers want to see how individual cells change over time and after treatments. About 200 participants aged 5 to 70 will be observed,…

This study follows 500 adults (400 with mitochondrial disease and 100 healthy or other-disease controls) for up to 10 years. Researchers collect medical data and samples to create a biobank, aiming to better understand how the disease progresses and to find ways to diagnose it ea…

This study is looking for new genes and biological markers that cause systemic autoinflammatory diseases (SAIDs), a group of rare conditions that cause repeated fevers and inflammation. Researchers will analyze the DNA and blood of 300 patients to find disease-causing mutations a…

This study is building a biobank of blood, spinal fluid, and tissue samples from 500 Chinese adults, including stroke patients, their families, and healthy volunteers. Researchers will analyze the samples to find genetic markers linked to stroke and its complications. The goal is…

This study aims to better understand Chopra-Amiel-Gordon Syndrome (CAGS), a rare genetic disorder. Researchers will track symptoms, brain images, and learning challenges in 125 people with confirmed or suspected CAGS over time. No treatments are being tested—the goal is to collec…

This study will enroll up to 1 million families to collect genetic and health information from parents and newborns. Researchers will analyze whole genomes, blood markers, and other biological data to understand how genes and environment affect pregnancy and child health. The goa…

This study is not a treatment trial. It aims to collect blood samples from 400 children and their relatives who have rare autoimmune or autoinflammatory diseases (like lupus or juvenile arthritis). Researchers will analyze the samples to find genetic mutations that cause these co…

This study is observing 600 people of any age with STXBP1 or SYNGAP1 gene mutations to better understand how these disorders affect development, seizures, and quality of life. No treatment is given; instead, researchers will collect data from routine clinical assessments over tim…

This study is building a biobank of genetic samples and medical information from 3600 patients visiting the Clinical Genetics department in Maastricht. Researchers will use the stored data to compare genes and discover unknown functions. The goal is to better understand how genet…

This study compares how well people with a genetic form of deafness (DFNB9) can hear and understand speech after receiving gene therapy versus a cochlear implant. Researchers will also include healthy participants for comparison. The goal is to see if gene therapy can match or ou…

This study is testing whether using rapid genetic sequencing can help doctors diagnose and treat birth defects in newborns in intensive care. Researchers will enroll 2,000 babies and compare death rates, disability rates, and genetic findings. The goal is to see if personalized t…

This study follows 100 children under 18 who are already on a ketogenic diet for conditions like drug-resistant epilepsy, autism, chronic migraine, or brain tumors. Researchers want to see if the diet supports healthy growth, improves symptoms, and boosts quality of life. The die…