Glycogen storage disease IXa1
MONDO:0010598Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes.
Also known as: glycogen storage disease IXa, PHKA2 glycogen storage disease, PHKA2-related glycogen storage disease type IX, glycogen storage disease IXa1, glycogen storage disease VIII, glycogen storage disease caused by mutation in PHKA2, glycogen storage disease type 9A, glycogen storage disease type IXa
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