Disorder of metabolite absorption and transport

This trial tests an experimental therapy called PM577a, which uses prime editing to correct a common genetic mutation that causes Wilson disease. The treatment is given as a single intravenous infusion and aims to restore the liver's ability to remove excess copper. The study inc…

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 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 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 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…