Inborn metal metabolism disorder

This study tests a new type of stem cell transplant for children with primary immune deficiencies or inherited metabolic disorders. The transplant uses stem cells from a half-matched family donor, which are specially processed to remove certain immune cells. The goal is to see if…

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 a bone marrow transplant from a family donor for children under 21 with severe non-cancer blood disorders like sickle cell disease, bone marrow failure, or immune problems. The goal is to see if the transplant can replace the diseased cells with healthy donor cel…

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 program offers extra stem cells from a half-matched family donor to patients who are getting a cord blood transplant for serious blood cancers or immune disorders. The goal is to help the bone marrow recover more quickly while the cord blood cells take over permanently. It i…

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 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 aims to better understand and treat people with certain inherited metabolic or genetic disorders. Researchers will use standard medical tests like blood work and imaging to diagnose and care for participants, who may also join other related studies. The goal is to expa…

This study looks at children with suspected or confirmed genetic and metabolic disorders to find new disease-causing gene mutations. Researchers will analyze blood samples for DNA and metabolites, and in some cases take a small skin sample. The goal is to better understand these …

This study at Necker Hospital in Paris is checking how well patients with inherited metabolic diseases follow their daily oral medication routines. About 200 patients (children aged 7 and up, teens, and adults) will fill out a questionnaire during a regular visit. The goal is to …

This study enrolls up to 15,000 children with known or suspected endocrine or metabolic disorders, along with their family members. Researchers will collect medical records, blood, saliva, and other samples to identify genetic changes linked to these conditions. The goal is to be…

This study is creating a large collection of blood, urine, stool, and heart tissue samples from 10,000 people with and without heart or metabolic conditions. The goal is to store these samples along with medical information to speed up future research into what causes these disea…

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 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 tests a new communication tool called 'Let's Get REAL' that helps children and teens (ages 8-17) and their families talk together about stem cell transplant or cellular therapy decisions. The goal is to see if the tool is easy to use and helpful for families. About 60 …

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 uses MRI scans to look for brain differences in people with metabolic diseases compared to healthy volunteers. Researchers will track changes over time and link them to body fat and other health measures. About 126 adults will take part at Ulm University Hospital. No d…

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 …

This study looks at how often young children (ages 1 to 6) with inherited metabolic diseases develop eating disorders when they are on special diets. Researchers will use a feeding scale to measure eating problems in 200 children. The goal is to understand the link between these …

The SMILE study is tracking 10,000 adults aged 18 and older to see how sarcopenia (age-related muscle loss) and metabolic diseases like diabetes influence overall health and lifespan. Researchers will collect data from medical records, tests, and surveys over time. This is an obs…

This study follows 100 children under 18 who are already on a ketogenic diet for conditions like drug-resistant epilepsy, autism, chronic migraine, or brain tumors. Researchers want to see if the diet supports healthy growth, improves symptoms, and boosts quality of life. The die…