Inherited thrombocytopenia

This phase 2 trial tested a combination of treosulfan, fludarabine, and rabbit antithymocyte globulin before a bone marrow transplant in 40 people with bone marrow failure diseases like Diamond-Blackfan anemia and Shwachman-Diamond syndrome. The goal was to see if this conditioni…

This study tested a medicine called BAX 930 in 52 people born with severe TTP, a rare condition that causes dangerous blood clots. The medicine replaces a missing enzyme to prevent or treat sudden flare-ups. Participants received either BAX 930 or standard treatment for 6 months,…

This study is building an international registry of people with GNE myopathy, an ultra-rare muscle disease that causes progressive weakness and often leads to wheelchair use. Participants will complete online questionnaires about their symptoms, medical history, quality of life, …

This study followed 78 people with GNE myopathy, a rare genetic disease that causes progressive muscle weakness starting in young adulthood. Researchers collected medical history, blood samples, and muscle function tests over up to two years to understand how the disease progress…

This study investigates inherited thrombocytopenias, rare conditions where low platelet counts cause bleeding problems. About half of patients have an unknown genetic cause. Researchers aim to identify new disease genes and build a lab-grown bone marrow model to test how well dru…

This study looked at 166 people with unexplained bleeding to find out how many have problems with tiny granules inside their platelets. These granules help blood clot. The researchers measured granule number, content, and release, and checked if these defects were linked to bleed…

This study looked at how a pill form of THC (dronabinol) affects sleep and thinking in 18 adults. Some participants used cannabis frequently (more than 3 times a week), while others rarely used it (less than 10 times ever). Researchers measured sleep stages, alertness, memory, an…