International Pompe Day is April 15. We would like to celebrate this day by raising more awareness for those who are living with Pompe Disease and help others understand the challenges they face. It is also a very exciting time as the newest treatment, avalglucosidase alfa (NEXVIAZYME™) has recently been approved by Health Canada.
Pompe is a genetic disease. People who have Pompe Disease have insufficient functioning of an enzyme called acid alfa glucosidase (GAA) which breaks down glycogen, in the body. Glycogen is how our body stores glucose, a type of sugar that our body uses for energy. Without this enzyme, there is a build-up of glycogen in lysosomes which are in many human cells. Lysosomes function to help rid cells of unwanted cellular debris and waste. The build-up of glycogen in lysosomes can cause symptoms such as muscle weakness, trouble breathing, enlarged heart, and more.
Pompe Disease is broken down into two forms, infantile and late-onset. The Infantile-form presents in the first few months of life and usually involves an enlarged heart whereas late-onset Pompe can present at any time in life and does not involve the heart.
For many years, alglucosidase alfa (MYOZYME™) has been the only drug used in Pompe Disease. Myozyme is an enzyme replacement therapy of the GAA enzyme that is deficient in patients with Pompe Disease. It can be used in both infantile Pompe Disease as well as late-onset Pompe. Patients receive an infusion of this enzyme every 2 weeks lifelong. However, as of late 2021, Health Canada has approved the use of a new enzyme replacement therapy for late-onset Pompe Disease.
As Charlton Health was the first centre to offer home infusions of Myozyme in Canada, our nursing team and pharmacists are very excited to be able to offer Nexviazyme as patients become eligible to receive this therapy.
Nexviazyme has been designed to be absorbed more efficiently into the muscle cells than Myozyme. The studies look very promising for this medication and have even shown to work as well as Myozyme for most assessments, but actually showed it was better than Myozyme when looking at the 6-minute walk test (6MWT). The 6-minute walk test evaluates how much distance a person can walk in 6-minutes and is used to assess their endurance and exercise tolerance. We look forward to helping patients that will be starting this new therapy.
If you want more information on Pompe Disease, refer to the Canadian Association of Pompe.
Marija Ilic is a Pharmacy Student from the University of Waterloo currently doing a rotation at Charlton Health as part of her final year of studies. Through Marija’s education, she has gained experience in both hospital and community pharmacy settings and hopes to find a specialized pharmacy role when she graduates.
- Diaz-Manera J, Kishnani PS, Kushlaf H, et al. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial [published correction appears in Lancet Neurol. 2022 Apr;21(4):e4]. Lancet Neurol. 2021;20(12):1012-1026. doi:10.1016/S1474-4422(21)00241-6
- Hahn, S. Lysosomal acid alpha-glucosidase deficiency (Pompe disease, glycogen storage disease II, acid maltase deficiency). In: Post T, ed. UpToDate. UpToDate; 2021. Accessed April 4, 2022. www.uptodate.com
- Six minute walk test (6MWT). American College of Rheumatology. Updated 2015. Accessed April 4, 2022. https://www.rheumatology.org/I-Am-A/Rheumatologist/Research/Clinician-Researchers/Six-Minute-Walk-Test-SMWT