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Diseases

Researchers Shed Light on Pompe's Disease with New Study

Strategic Insights

— 1 min read

Research conducted at the University of Copenhagen, in collaboration with international partners, has unveiled significant findings on the pathophysiology of late-onset Pompe disease. The study discovered that patients with the condition exhibit higher glycogen levels in specific muscle groups, particularly in the hamstring, lumbar, and anterior thigh muscles, as compared to healthy controls. These findings have substantial implications for the understanding and management of Pompe disease, with potential implications for early biomarker development and treatment assessment.

Key Takeaways:

  • The study included 11 late-onset Pompe patients (6 female, mean age 31, range 20-44) and 16 healthy volunteers (10 female, mean age 27, range 19-35).
  • Researchers used 7 Tesla C-MR Spectroscopy to quantify glycogen concentration in four muscle groups: the calf, hamstring, anterior thigh, and lumbar muscles.
  • The study revealed that Pompe subjects had significantly higher glycogen levels in hamstring muscles (1.8 times, p=0.001) and lumbar muscles (2.2 times, p=0.004) compared to controls.
  • The researchers suggested that high glycogen levels precede fatty degeneration of muscles, and glycogen monitoring could be an important biomarker for assessing treatment effect in Pompe disease.
  • The study, led by Gry H. Beha, received financial support from Sanofi and was peer-reviewed before publication in the Journal of Neurology, Neurosurgery & Psychiatry.

Statistics:

  • 11 late-onset Pompe patients were included in the study.
  • 16 healthy volunteers served as controls.
  • The study employed 7 Tesla C-MR Spectroscopy for glycogen quantification.
  • Pompe subjects had 1.8 times more glycogen in hamstring muscles and 2.2 times more in lumbar muscles.
  • The first muscles to degenerate in Pompe disease are hamstring and paraspinals.
  • The researchers concluded that high glycogen levels precede fatty degeneration of muscles.

Sources:

  • Quantification of muscle glycogen distribution in Pompe disease using 7 Tesla 13C NMR spectroscopy. Journal of Neurology, Neurosurgery & Psychiatry, 2025.
  • Health & Medicine Week. October 31, 2025; p 74.
  • University of Copenhagen
  • Sanofi

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