Disorder of iron metabolism and transport

This study tests whether using a blood marker called transferrin saturation to guide bloodletting (removing blood) improves quality of life in people with HFE haemochromatosis, a genetic condition causing iron buildup. 239 adults already on maintenance bloodletting will be random…

This study looks at whether the MCV test (which measures red blood cell size) is as good as or better than the standard ferritin test for guiding phlebotomy (blood removal) therapy in people with hereditary hemochromatosis, a condition causing too much iron absorption. About 622 …

This study tests new vitamin and mineral supplements called EasiVits for children aged 1-16 with inborn errors of metabolism (IEM). These supplements have less carbohydrate and no flavor, so they can be used with different diets and kids can add their own taste. The goal is to se…

This study will collect and analyze genetic data from 1000 people with suspected inherited metabolic diseases, including conditions like epilepsy and mitochondrial disorders. Researchers at Karolinska University Hospital aim to improve diagnosis by using advanced genetic testing …

This study was designed to track how COVID-19 infection might worsen the condition of people with inherited metabolic diseases (IMD). Researchers planned to collect information from French patients with IMD who had or had COVID-19 to see how often their metabolic disease got wors…