Inborn metal metabolism disorder

This early-stage trial is testing whether a new once-daily version of the drug trientine (TETA 4HCl) works similarly to the current twice-daily formulation. The study involves healthy adult volunteers who will receive both versions in a crossover design to compare how the drug is…

This trial tests whether taking polyphenol supplements with a meal can reduce how much iron the body absorbs in people with iron overload disorders like genetic hemochromatosis and dysmetabolic iron overload syndrome. Participants eat a standardized iron-rich meal with either pol…

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 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 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 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…