Lethal congenital glycogen storage disease of heart
MONDO:0009867Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene.
Also known as: PRKAG2 glycogen storage disease, fatal congenital hypertrophic cardiomyopathy due to GSD, fatal congenital hypertrophic cardiomyopathy due to glycogenosis, glycogen storage disease caused by mutation in PRKAG2, phosphorylase kinase deficiency of heart, fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease, glycogen storage disease of heart, glycogen storage disease of heart, lethal congenital
8 clinical trials for this condition and its sub-types, 0 tagged with Lethal congenital glycogen storage disease of heart itself.
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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
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Can a gene registry unlock the secrets of childhood heart failure?
Knowledge-focused OngoingThis study gathers health information from children under 18 who have cardiomyopathy linked to mutations in the MYBPC3 gene. Researchers aim to map the disease's natural course, identify risk factors, and measure how it affects quality of life. By reviewing past and future medica…
Sponsor: Tenaya Therapeutics • Aim: Knowledge-focused
Last updated Sep 04, 2026 00:00 UTC