Hereditary hemochromatosis

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 how well a special MRI scan called LiverMultiScan can measure liver fat, iron, and scarring. 61 adults with various liver diseases had up to 6 scans on different machines. The goal was to see if the results are consistent when repeated on the same scanner or on …

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 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 whether people with hereditary hemochromatosis (a condition causing too much iron in the body) have higher rates of gum disease. Researchers examined 87 adults aged 35 to 64 with the C282Y gene mutation. They measured gum pocket depth and clinical attachment …

This study followed 100 adults with genetic hemochromatosis (a condition causing too much iron in the body) for 3 years to see how their bone health changed. Researchers measured bone density and checked for fractures and joint problems. The goal was to understand if iron overloa…

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…