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Medium chain acyl-CoA dehydrogenase deficiency
MONDO:0008721Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.
Also known as: ACADM deficiency, Acyl-CoA dehydrogenase, medium chain, deficiency of, Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency, MCAD, MCAD deficiency, MCADD, acyl-CoA dehydrogenase, medium-chain deficiency, medium chain acyl-CoA dehydrogenase deficiency
7 clinical trials for this condition and its sub-types, 7 tagged with Medium chain acyl-CoA dehydrogenase deficiency itself.
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Could a urea cycle drug help MCAD patients fast longer?
Disease control PausedThis study tests whether sodium phenylbutyrate, a drug already approved for another condition, can help people with MCAD deficiency (a genetic disorder that affects fat breakdown). About 24 participants aged 10 and older will take the drug for 4 weeks. Researchers will check for …
Phase 2 • Sponsor: Jerry Vockley, MD, PhD • Aim: Disease control
Last updated Jul 08, 2026 00:00 UTC
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Could a fatty acid drug stop dangerous sugar crashes in rare disease?
Disease control CancelledThis study tests a drug called triheptanoin, already approved for similar conditions, to see if it can prevent dangerously low blood sugar in people with MCADD, a rare inherited disorder. About 24 participants aged 4 and older will take the medication and be monitored for safety …
Phase 2 • Sponsor: Jerry Vockley, MD, PhD • Aim: Disease control
Last updated Jul 04, 2026 00:00 UTC
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC
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Could a fatty acid drug stop dangerous sugar crashes in rare disease?
Prevention CancelledThis study tests a drug called triheptanoin in 8 adults with MCADD, a rare condition that can cause dangerously low blood sugar. The goal is to see if the drug is safe and can prevent hypoglycemia during fasting. Participants will stay overnight at a hospital for monitoring and b…
Phase 2 • Sponsor: Jerry Vockley, MD, PhD • Aim: Prevention
Last updated Jul 04, 2026 00:00 UTC