Inherited fatty acid metabolism disorder

This program provides expanded access to triheptanoin for people with long-chain fatty acid oxidation disorders (LC-FAOD) who have few treatment options and cannot join a clinical trial. The goal is to help manage the disease by providing an alternative energy source for the body…

This study tests whether sodium phenylbutyrate (ACER-001), a drug already approved for another condition, can help people with MCAD deficiency caused by a specific gene mutation. About 24 participants aged 4 and older will take the drug and be monitored for safety and how well it…

This study tests whether taking L-carnitine, a natural substance that helps turn fat into energy, can improve symptoms and quality of life in people with heart failure and kidney problems. About 20 adults will take the supplement for a short time while researchers monitor side ef…

This study looks at how medium-chain and long-chain fatty acids affect metabolism in people with Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) and healthy individuals. Researchers will measure ketone bodies, resting metabolic rate, and other factors after participants co…

This study looks at whether people with certain rare metabolic disorders that cause high ammonia levels will measure their ammonia at home every day. About 30 participants will use a special device to check their ammonia, along with temperature, heart rate, and blood oxygen. They…

This study aims to find genetic mutations that cause spontaneous coronary artery dissection (SCAD), a condition where arteries in the heart tear without warning. Researchers will analyze DNA from 2000 people diagnosed with SCAD, as well as their relatives. The goal is to identify…

This study is creating a large registry of people who have had a spontaneous coronary artery dissection (SCAD), a type of heart attack. Researchers will collect medical history and follow participants over time to learn more about risk factors, treatments, and long-term outcomes.…

This study is following 300 people in Norway who have had a spontaneous coronary artery dissection (SCAD), a rare cause of heart attacks, especially in women. Researchers will use scans, blood tests, and questionnaires to track their health for one year. The goal is to better und…