Disorder of copper metabolism

This study tested whether the drug Northera (droxidopa) is safe and helpful for adults with Menkes disease or Occipital Horn Syndrome who have trouble with low blood pressure and other symptoms of dysautonomia. Three participants took either the drug or a placebo in a crossover d…

This study looked at whether people with Wilson's disease prefer a new once-daily version of the drug trientine over their usual treatment, which is taken multiple times a day. Ten adults on stable standard care tried the new formulation and reported their satisfaction and conven…

This study looked at a new blood test that measures copper levels in people with Wilson's disease, a rare condition where copper builds up in the body. Researchers collected extra blood samples from 50 adults during routine visits over about a year. The goal was to see if this te…

This study tested new MRI and MRE techniques that let children breathe normally during scans, instead of holding their breath. The goal was to measure liver fat and stiffness more comfortably and accurately in kids with fatty liver disease. 135 children aged 6-17 took part, and t…

This study looked at two new blood tests, called exchangeable copper (EC) and relative exchangeable copper (REC), to see if they could better monitor Wilson's disease than standard tests. Researchers compared these blood tests with usual copper measurements in 81 adult patients w…