Disorder of metabolite absorption and transport

This study tested a program that combines small loans and group support to help people with HIV in Kenya. The goal was to improve HIV medication adherence, mental health, and family relationships. 843 people took part, and the program aimed to reduce depression, anxiety, and PTSD…

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 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 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 96 people with a rare condition called acrodermatitis enteropathica, which causes severe zinc deficiency. Researchers analyzed blood samples to find genetic mutations in 56 genes related to zinc handling. The goal was to better understand the genetic causes o…

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 150 adults with sepsis in the ICU to see if low magnesium levels are connected to blood clotting problems. Researchers measured magnesium and clotting markers at admission and tracked outcomes like DIC and survival. The goal was to understand if magnesium cou…

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 tested whether weekly community-led group discussions could improve trust and openness to COVID-19 testing and vaccination. Fifty-seven adults from nine housing agencies took part in online meetings and completed surveys over six months. The goal was to see if peer-led…

This study tested whether weekly community-led group discussions about health topics could change how people feel about COVID-19 testing and vaccines. 49 adults from housing authority agencies took part in Zoom meetings and completed surveys over 18 weeks. The goal was to see if …

This study analyzed data from over 12,000 past ICU patients to compare three approaches for treating low magnesium levels: no treatment, daily magnesium, or magnesium only when daily tests show low levels. The goal was to see which strategy best reduces the risk of death within 2…

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…