Glycogen storage disease IX
MONDO:0700291A group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency.
Also known as: GSD IX, GSD type 9, GSD type IX, GSD9, GSDIX, glycogen storage disease 9, glycogen storage disease IX, glycogen storage disease type 9
3 clinical trials for this condition and its sub-types.
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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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Researchers launch Largest-Ever natural history study for rare GSD types
Knowledge-focused Recruiting nowThis study is collecting medical information from 400 people with Glycogen Storage Disease Type VI or Type IX to learn how these rare liver conditions progress over time. Researchers will review patient records from clinic visits to track disease changes, genetic types, and lab r…
Sponsor: Duke University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:29 UTC