Pseudohypoparathyroidism

This study tests whether adding the drug vorinostat to standard care can prevent graft-versus-host disease (GVHD) in children and young adults (ages 1-26) with non-cancerous blood disorders who are getting a bone marrow transplant. GVHD is a serious complication where donor cells…

This phase 2 trial tests the drug setmelanotide in one person with pseudohypoparathyroidism type 1a (PHP1a), a rare genetic disorder that often causes severe obesity. The participant will receive daily injections of setmelanotide for six months to see if it leads to weight loss a…

This trial will test an artificial intelligence system designed to interpret routine newborn screening tests for inherited metabolic disorders. Researchers will compare the AI's accuracy to standard manual review by trained staff. The study plans to include 200,000 newborns in Ch…

This study will observe 50 children (ages 1 month to 18 years) who come to the emergency room with kidney-related symptoms like swelling, blood in urine, or high blood pressure. Researchers want to learn which kidney diseases are most common and how children respond to initial tr…

This study will collect blood samples from 30,000 adults in the UK with various health conditions, including blood clots, infections, heart disease, diabetes, and more. The samples will be used to develop and fine-tune new diagnostic tests for the cobas® lumira device, which allo…

This 10-year observational study will follow 10,000 adults with diabetes, metabolic disorders, and related conditions like high blood pressure and fatty liver disease. Researchers will collect routine medical data to identify markers of disease severity and activity. The goal is …