Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
MONDO:0012173Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.
Also known as: HELLP syndrome, maternal, of pregnancy, LCHAD deficiency, LCHADD, fatty liver, acute, of pregnancy, long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, 3-hydroxyacyl-CoA dehydrogenase long chain deficiency, long-chain 3-OH acyl-CoA dehydrogenase deficiency
15 clinical trials for this condition and its sub-types.
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Could a short course of steroids calm a dangerous heart rhythm?
Disease control ENROLLING_BY_INVITATIONThis trial tests whether an 8-week course of the immunosuppressive drug prednisone can reduce episodes of ventricular tachycardia (a potentially fatal fast heart rhythm) and improve heart function in people with non-ischemic cardiomyopathy and confirmed heart inflammation. Partic…
Phase: PHASE4 • Sponsor: Roderick Tung • Aim: Disease control
Last updated Jul 29, 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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Super MRI could spot hidden heart damage
Diagnosis OngoingThis study tests whether a new, more powerful 7 Tesla MRI can better detect scarring and swelling in the heart muscle of people with cardiomyopathy. Researchers will scan 13 adults aged 20-70 to see if the higher-resolution images improve diagnosis. The goal is to see if this adv…
Sponsor: University of Pennsylvania • Aim: Diagnosis
Last updated Jun 27, 2026 09:02 UTC