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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Heart scans may unlock hidden risks in minority communities
Knowledge-focused Recruiting nowThis study is looking at whether advanced heart imaging, especially cardiac MRI, can help identify the cause of cardiomyopathy and predict risks like death or heart failure in a diverse group of patients. The research focuses on adults in the Bronx, including many from Hispanic a…
Sponsor: Montefiore Medical Center • Aim: Knowledge-focused
Last updated Aug 12, 2026 00:00 UTC
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Can a national registry unlock the genetic secrets of glycogen storage diseases in indian children?
Knowledge-focused Recruiting nowThis study aims to create a nationwide registry of Indian children with hepatic glycogen storage diseases (GSDs), a group of inherited metabolic disorders affecting the liver and muscles. By collecting genetic, clinical, and outcome data from 250 children, researchers hope to map…
Sponsor: Institute of Liver and Biliary Sciences, India • Aim: Knowledge-focused
Last updated Aug 07, 2026 00:00 UTC
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10,000 heart patients join online registry to unlock secrets of cardiomyopathy
Knowledge-focused Recruiting nowThis study is building a large online registry of 10,000 adults with cardiomyopathy or myocarditis, plus those with a strong family history. Researchers will track participants over time to see how many experience serious events like heart failure, dangerous heart rhythms, or dea…
Sponsor: Imperial College London • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:01 UTC
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AI could help predict sudden cardiac death in hereditary heart disease patients
Knowledge-focused Recruiting nowThis study aims to improve how doctors predict the risk of sudden cardiac death or heart failure in people with inherited heart diseases. Researchers will use artificial intelligence to analyze data from 1,000 participants, including medical history, ECGs, imaging, genetic tests,…
Sponsor: Nantes University Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:00 UTC
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Can we predict who will die suddenly from heart problems?
Knowledge-focused Recruiting nowThis study follows 1500 people who already have an implantable cardioverter-defibrillator (ICD) to prevent sudden cardiac death. Researchers will track heart function, genetics, and blood markers to find better ways to predict who is at highest risk. The goal is to improve how do…
Sponsor: Johns Hopkins University • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:13 UTC
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Heart tissue analysis aims to unlock better diagnosis
Knowledge-focused Recruiting nowThis study looks at heart tissue samples from 216 adults who already need a biopsy as part of their care. Researchers want to find unique molecular patterns in different heart conditions, including after a heart transplant. The goal is to improve how these diseases are diagnosed …
Sponsor: University Hospital, Essen • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:12 UTC