Glycogen storage disease IXc
MONDO:0013091A liver PhK deficiency caused by variants in the PHKG2 gene
Also known as: GSD type 9C, GSD type IXc, GSD9C, PHKG2 glycogen storage disease, PHKG2-related glycogen storage disease type IX, glycogen storage disease IXc, glycogen storage disease caused by mutation in PHKG2, glycogen storage disease type IXc
3 clinical trials for this condition and its sub-types, 2 tagged with Glycogen storage disease IXc itself.
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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