Cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome

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 tested whether a single infusion of zoledronic acid (Reclast) can prevent fractures in men and women aged 60 and older with Parkinson's disease or related conditions. Over 2,700 participants were randomly assigned to receive either the drug or a placebo, and were follo…

This study tested whether infusing tiny bubbles of oxyhydrogen gas could help people with Parkinsonism. 35 adults received the infusion alongside their usual care. Researchers measured changes in disease severity, thinking ability, and quality of life. The goal was to see if this…

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 completed study looked at over 2,500 people with Parkinson's disease who were admitted to the hospital through the emergency room. Researchers wanted to find the main reasons for these hospital stays and compare them to people of the same age without Parkinson's. The goal wa…

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…