RARE DISEASES

This study tests a drug called crofelemer in 6 children with microvillus inclusion disease (MVID), a rare condition causing severe diarrhea and dependence on IV fluids. The drug is given as a powder mixed with water, three times a day, and compared to a placebo. The goal is to se…

This study looks at skin cells (fibroblasts) from people with Marfan syndrome and other genetic conditions that cause thoracic aortic aneurysms (a bulging of the main artery in the chest). Researchers want to find out how these cells behave differently and what genes or proteins …

This study is testing a new way to care for people with rare diseases. It will use advanced genetic testing and a team of specialists to help diagnose patients faster and coordinate their care better. The study involves 136 participants with certain rare diseases and aims to redu…

This study is not testing a new treatment. Instead, it observes how 100 adults with a rare autoimmune disease called NMOSD are managed in everyday Russian clinics. Researchers will collect medical records and follow patients over time to understand their symptoms, treatments, and…

Mayo Clinic is creating a biobank of samples from 5,000 people with rare or undiagnosed diseases, along with their family members. Researchers will analyze DNA, RNA, and other samples to find markers and causes of these conditions. The goal is to build a library of information th…

This observational study examines how the nervous system works in 139 adults with thoracic aortic aneurysms (a bulge in the chest's main artery). Participants lie down and then stand while their blood pressure and breathing are monitored non-invasively. The goal is to see if nerv…

This observational study looks at muscle strength, structure, and nerve function in people with Marfan syndrome or Ehlers-Danlos syndrome. Participants undergo a non-invasive muscle ultrasound and perform voluntary contractions while their muscle activity is recorded. The goal is…

This study observes 80 children with Marfan syndrome to understand how the condition impacts their quality of life, self-image, and ability to manage their health. Participants fill out questionnaires about their well-being and medication habits. The goal is to identify who might…

This study will analyze DNA from 10,000 people with suspected rare genetic disorders affecting the brain. Researchers will map structural changes in chromosomes to find which genes cause disease. The goal is to improve genetic diagnosis and lay groundwork for future treatments.