Skip to content

Pompe Disease

About

Pompe disease is a rare, autosomal recessive, inherited disorder in which toxic levels of the complex sugar glycogen accumulates in cells. Pompe disease is estimated to affect less than one in 50,000 individuals worldwide. There are two forms of the disease:

  1. Early-onset (or infantile onset): Pompe disease has an onset age <12 months and affects the heart muscle (cardiomyopathy); muscle weakness, enlarged liver and heart, difficulty breathing and feeding occur
  2. Late-onset: Pompe disease has an onset age >12 months or onset age <12 months without cardiomyopathy; progressive muscle weakness, difficulty breathing, chronic pain, enlarged organs, and other symptoms occur

Pompe is also known as acid maltase deficiency (AMD), glycogen storage disease (GSD) type II, acid alpha-glucosidase deficiency, or GAA deficiency.

Pompe disease is caused by low levels or absence of acid alpha-glucosidase (GAA), an enzyme that normally breaks down glycogen in the lysosome, due to mutations in the GAA gene encoding GAA. GAA deficiency results in glycogen accumulating in lysosomes in multiple tissues, particularly cardiac and skeletal muscles.

Currently available treatments addressing GAA enzyme deficiency include:

  1. Enzyme replacement therapy (ERT)
  2. Multiple investigational products in development, including gene therapy 

M6PT is exploring potential gene therapy products and ERT options to treat individuals with Pompe disease.

References

  1. Leslie N, Bailey L. Pompe disease. May 11, 2017 update in Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews. [Internet] https://www.ncbi.nlm.nih.gov/books/NBK1261/
  2. Kohler L, Puertollano R, Raben N. Pompe disease: from basic science to therapy. Neurotherapeutics. 2018;15:928-942.
  1. Leslie N, Bailey L. Pompe disease. May 11, 2017 update in Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews. [Internet]
  2. Kohler L, Puertollano R, Raben N. Pompe disease: from basic science to therapy. Neurotherapeutics. 2018;15:928-942.