Syndromic constitutional thrombocytopenia

This early-stage trial tests UX016, a drug designed to help people with GNE myopathy, a rare genetic muscle-weakening disease. Researchers will give the drug or a placebo to 24 adults to see if it is safe and improves muscle strength. The study is not yet recruiting.

This phase IIa trial tests whether FT1, a lab-made version of a natural gut hormone, is safe and helps reduce fluid loss in adults with short bowel syndrome. Participants receive weekly injections of FT1 or a placebo for five weeks. The study measures changes in stool weight and …

This natural history study follows up to 4,000 people with inherited bone marrow failure syndromes (IBMFS) and their families to learn why they are prone to certain cancers. Researchers will track health over time, collect genetic samples, and look for clues that separate those w…

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 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 looks for substances in the blood that might be linked to fatigue in people with low platelet counts (thrombocytopenia). Researchers think a protein called BDNF, which is stored in platelets, could play a role. They will measure BDNF levels in 280 patients and healthy …