Inborn metal metabolism disorder

This trial tests an experimental therapy called PM577a, which uses prime editing to correct a common genetic mutation that causes Wilson disease. The treatment is given as a single intravenous infusion and aims to restore the liver's ability to remove excess copper. The study inc…

This phase 2 trial tests an experimental drug called vamifeport in 84 adults with HFE-related hereditary hemochromatosis, a genetic condition causing iron buildup. The drug aims to reduce liver iron levels, potentially offering an alternative to regular blood removal. Participant…

This study tests whether injecting sodium thiosulfate directly into abnormal calcium deposits can shrink them and reduce pain. It includes people with three rare conditions: systemic sclerosis, dermatomyositis, and a genetic disorder called iPPSD2. Participants receive up to 11 i…

This early-stage trial tests an oral drug called BBI-001 for hereditary hemochromatosis, a condition where the body stores too much iron. The study has two parts: one checks safety in healthy volunteers, and the other measures how well the drug controls iron levels in patients. A…

This early-phase trial tests a single dose of LY-M003, a gene therapy that delivers a working copy of the ATP7B gene to liver cells. The goal is to see if it is safe and can reduce the need for standard Wilson disease medications. The study enrolls 18 adults and children with con…

This early-phase trial tests a new mRNA drug called DSL101 in 18 adults with Wilson disease, a genetic condition that causes copper buildup. The drug is designed to help the body produce a protein that controls copper. Participants receive low, medium, or high doses by IV every f…

This study tests whether Northera (droxidopa) is safe and can improve symptoms like dizziness, fainting, and low blood pressure in children aged 7 to 17 with Menkes disease. Six to ten participants will receive either the drug or a placebo in two four-week periods, with careful d…

This study looks at whether a personalized strength exercise program can improve muscle function and reduce weakness attacks in adults with hypokalemic or hyperkalemic periodic paralysis. Over 24 weeks, 36 participants will be tested at the start, at 12 weeks, and after 12 weeks …

This study follows up to 3,000 people who have, are at risk for, or are related to someone with a parathyroid disorder. Researchers will collect medical records, questionnaires, and samples like blood and saliva to learn what causes these conditions and how they change over time.…

This study is building a large international registry of people with Wilson's disease, a rare genetic condition that causes copper to build up in the body. Researchers will collect data from routine clinic visits over several years to describe the natural course of the disease in…

This study creates a registry for people diagnosed with Wilson disease, a rare genetic condition that causes copper buildup in the body. Researchers will collect medical data and biological samples over time to help future studies improve diagnosis and treatment monitoring. The g…

This study looks at whether briefly stopping Wilson disease medication can give a clearer picture of copper levels in the body. Researchers will monitor 30 stable patients for 4 days off treatment, measuring urine copper and blood markers. The goal is to find a better way to trac…

This observational study will follow 2000 children and adults with imprinting disorders—rare genetic conditions like Silver-Russell and Prader-Willi syndromes. Researchers aim to describe the natural history of these diseases and identify common metabolic profiles, risks for obes…

This study looks at skin damage caused by D-Penicillamine, a common treatment for Wilson's disease. Researchers will measure skin elasticity in 120 participants, including patients and healthy volunteers, using silicone molds and laser analysis. The goal is to better understand h…

This study is creating a large database to collect information on people with rare diseases like amyloidosis, sarcoidosis, and Gaucher disease. Researchers will track patients' health over time, including their symptoms, treatments, and outcomes. The goal is to improve diagnosis …

This study looks at how copper levels in urine change throughout the day in people with Wilson disease, a genetic condition that causes copper buildup. Currently, patients must collect all urine over 24 hours to monitor treatment, which is inconvenient. Researchers want to see if…

This study looks at copper levels in breast milk from women with Wilson's disease who are on treatment. Wilson's disease causes copper buildup, and treatment can lower copper, which might affect breast milk. The goal is to find out if breastfeeding is safe for their babies. About…

This study looks at dental health and oral quality of life in people with Wilson's disease, comparing those with liver versus neurological symptoms to healthy controls. Researchers will collect saliva samples and use questionnaires and dental exams to see if copper levels in sali…

This study looks at whether Wilson's disease, a condition where copper builds up in the body, also damages the heart. Researchers will monitor 150 adults with Wilson's disease using heart scans, blood tests, and long-term heart rhythm recorders. The goal is to find out how often …