Rare Disease Highlight: Pompe Disease

By Rita Ejiofor

Pompe disease is a rare disorder caused by a lack of acid alpha glucosidase enzyme (GAA), which is responsible for breaking down glycogen and using it as an energy source ¹. The name Pompe disease is derived from JC Pompe, a Dutch pathologist who first discovered the disease in a young infant in 1932 ². There are two forms of the disease, Infantile Onset Pompe disease (IOPD) which occurs in children who develop the disease by the age of 12 months or younger and Late Onset Pompe disease (LOPD) in patients who developed the disease after the first year of life. Patients who suffer from Pompe disease commonly have symptoms such as respiratory failure, droopy eyes, muscle weakness, abdominal pain, vomiting, diarrhea, and even swelling of the blood vessels in the brain. This rare disorder affects approximately every 1 in 40,000 patients in the US ¹. Currently, there is no cure for Pompe disease. However, the main therapy option is enzyme replacement therapy (ERT) which works by replacing the missing GAA enzyme with a recombinant human form (rhGAA) ³. However, this treatment is not always effective and there is still a need for newer therapy options.

References

1. Dasouki, M., Jawdat, O., Almadhoun, O., Pasnoor, M., McVey, A. L., Abuzinadah, A., Herbelin, L., Barohn, R. J., & Dimachkie, M. M. (2014). Pompe disease: Literature review and case series. In Neurologic Clinics. https://doi.org/10.1016/j.ncl.2014.04.010
2. “Emory University School of Medicine Department of Genetics.” Pompe Disease, 2019, genetics.emory.edu/patient-care/lysosomal-storage-disease-center/pompe-disease.html.
3. Chen, M., Zhang, L., & Quan, S. (2017). Enzyme replacement therapy for infantile-onset Pompe disease. In Cochrane Database of Systematic Reviews. https://doi.org/10.1002/14651858.CD011539.pub2 

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