Glycogen storage disease due to phosphoglycerate mutase deficiency
MONDO:0009865A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy.
Also known as: GSD due to phosphoglycerate mutase deficiency, GSD type 10, PGAM2 glycogen storage disease, glycogen storage disease caused by mutation in PGAM2, glycogen storage disease type 10, glycogenosis due to phosphoglycerate mutase deficiency, muscle phosphoglycerate mutase deficiency, myopathy due to phosphoglycerate mutase deficiency
3 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsBroader categories
-
Scientists launch major study to unravel mysterious metabolism disorders
Knowledge-focused Recruiting nowThis study aims to learn more about rare disorders that affect how the body processes chemicals called pyrimidines and purines. These disorders can cause problems in the brain, blood, kidneys, and immune system, ranging from mild to life-threatening. Researchers will compare test…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Aug 12, 2026 00:00 UTC
-
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
-
Scientists launch Largest-Ever study of Ultra-Rare GSDs
Knowledge-focused Recruiting nowThis study tracks 200 people with ultra-rare glycogen storage diseases (GSDs) like types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome, and Danon disease. Researchers will collect medical records and other data to see how these conditions progress over time. No treatments or dru…
Sponsor: Duke University • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:08 UTC