Wilson disease

This study tested two different chemotherapy drugs (Treosulfan and Busulfan) given before a stem cell transplant in 106 children with serious non-cancer diseases like immune disorders, metabolic diseases, blood disorders, and bone marrow failure. The goal was to see which drug le…

This study tested a new method called global metabolomic profiling to diagnose inborn errors of metabolism, a group of rare genetic disorders. Researchers compared this approach to traditional testing in 240 participants. The goal was to see if the new method could more accuratel…

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 created a registry of medical records from women with inborn errors of metabolism—rare conditions that affect how the body turns food into energy. Researchers collected data from past or current pregnancies and followed babies for one year after birth. The goal was to …

This completed study looked at how the social networks of caregivers affect their stress and health when caring for someone with an inherited disease. Researchers surveyed over 680 participants, including family members and formal caregivers, to understand caregiving burden and s…

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…

This study looked at how many girls and young women aged 11 to 20 with chronic diseases (like diabetes or immune conditions) got the HPV vaccine, compared to those without chronic illness. Researchers reviewed records of 223 participants from a hospital in France. The goal was to…