A new clinical trial assessing whether high levels of glycogen in the skeletal muscles of patients with glycogen storage diseases including Pompe disease are a prelude to muscle damage is now recruiting participants. 

The noninterventional trial aims to recruit 50 participants, who either have McArdle disease or Pompe disease or are healthy, in Denmark. Participants were 18 years of age and above.

Participants who have ferrous objects in or around the body, are using pacemakers or other implanted electronic devices, suffer from claustrophobia, are unable to understand the purpose of the trial, or are uncooperative in the conduction of the experiments, and those who are pregnant or breastfeeding are not eligible to take part in the study. The full eligibility criteria can be found on the trial website.

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Read more about the pathophysiology of Pompe disease

The investigators, led by Mads Stemmerik, MD, will examine participants with McArdle or Pompe disease using carbon-13 magnetic resonance spectroscopy to quantify the glycogen levels in their lumbar, thigh, and calf muscles. They will then compare the pattern of glycogen concentration to that of muscle atrophy in the literature.

The difference in muscle glycogen between patients and controls and between different muscle groups in patients is the primary outcome measure of the trial.

The study is taking place at the Neuromuscular Research Unit, 8077 in Copenhagen, Denmark, and is sponsored by Rigshospitalet, Denmark. Its estimated completion date is May 2024.

Pompe disease, also known as glycogen storage disease type 2, is a rare genetic disease caused by mutations in the gene coding for the acid alpha-glucosidase (GAA) enzyme. The role of this enzyme is to cleave glycogen into glucose within the lysosome. When the enzyme is deficient, glycogen accumulates inside tissues, mainly cardiac and skeletal myocytes, leading to lysosomal enlargement and rupture and subsequent cellular damage and organelle dysfunction.


Carbon-13 magnetic resonance spectroscopy in glycogen storage diseases. US National Library of Medicine. Last updated October 31, 2022. Accessed November 1, 2022.