Glycogen storage disease V
MONDO:0009293Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance.
Also known as: GSD due to muscle glycogen phosphorylase deficiency, GSD type 5, GSD type V, McArdle disease, Mcardle disease, PYGM glycogen storage disease, glycogen storage disease V, glycogen storage disease caused by mutation in PYGM
3 clinical trials for this condition and its sub-types.
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Dietary oil shows promise for rare muscle disorder
Symptom relief CompletedThis study tested whether a dietary oil called triheptanoin can improve exercise capacity in adults with McArdle disease, a rare genetic disorder that affects how muscles use stored sugar. Twelve participants received either triheptanoin or a placebo oil for two weeks, then switc…
Phase: PHASE2 • Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Symptom relief
Last updated Jun 26, 2026 13:57 UTC
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Can a breath test reveal how muscles make energy? tiny study explores new way to track treatment effects
Knowledge-focused CompletedThis small pilot study looked at whether simple breath and urine tests can measure how well muscles produce energy in children with metabolic myopathies (rare muscle disorders). Three participants completed a 12-week at-home physiotherapy program. The goal was to see if these non…
Phase: NA • Sponsor: University of British Columbia • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:02 UTC