Disorder of metabolite absorption and transport

This early-stage trial tests a single-dose gene therapy called LY-M003 in 18 adults with Wilson's disease, a genetic condition that causes copper buildup. The goal is to see if it's safe and can reduce or eliminate the need for standard daily medications. Participants receive one…

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 3 trial compares a new once-daily formulation of trientine tetrahydrochloride (TETA 4HCl) to the standard drug D-penicillamine for people newly diagnosed with Wilson's disease. About 38 adults and children (ages 8 and up, weighing at least 55 lbs) will be randomly assi…

This early-stage trial tests a gene therapy called GC310 for Wilson's disease, a genetic condition that causes copper buildup in the body. Researchers will give a single dose to 15 adults and monitor them for a year to check safety and whether it improves copper levels. The goal …

This phase III trial tests a vitamin B12 injection (hydroxocobalamin chloride) in 20 children aged 6 months to 18 years with a specific type of methylmalonic acidemia (cobalamin C deficiency). The goal is to see if the injection can normalize levels of certain acids in the blood …

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 looks at how often kidney problems occur in people with Wilson's disease, a rare genetic condition that causes copper buildup. Researchers will check 150 patients aged 7 and older for signs of kidney damage, including chronic kidney disease, tubule issues, and calcium …

This study looks at the real-life challenges faced by people with Wilson's disease in Upper Egypt, a rare condition where copper builds up in the body. Researchers will survey 66 patients and their caregivers about diet, knowledge, attitudes, and barriers to care. The goal is to …

This study will check for hormone problems in 30 children with Wilson's disease, aged 3 to 18. Researchers will look at how the pituitary, thyroid, adrenal, and sex glands are working. The goal is to find out how common these issues are and what types occur, which could help impr…

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 …