Pompe Disease - What's Changed?

Pompe disease, also known as acid maltase disease and glycogen storage disease II, is a rare genetic disorder that results in progressive weakness in the heart and skeletal muscles. This debilitating condition is caused by mutations in a gene responsible for producing an enzyme called acid alpha-glucosidase (GAA). This enzyme plays a crucial role in breaking down glycogen, a stored form of sugar utilized by the body for energy.

The GAA enzyme carries out its essential function within specialized cellular compartments known as lysosomes, which act as the body’s cellular clearinghouses. Lysosomes are responsible for ingesting various substances, including glycogen. Once inside the lysosomes, the GAA enzyme converts glycogen into glucose, a vital sugar that serves as a primary energy source for muscle function.

In this article, we will look into the latest guideline/consensus recommendations on Pompe disease as outlined by the American Association of Neuromuscular and Electrodiagnostic Medicine (AANEM). Following the publication of the Treatment Recommendations for Late-Onset Pompe Disease, two new medications have been approved for the treatment of Pompe disease. This article will focus on the consensus recommendations and the FDA updates that have emerged.

Part 1 – Current Pompe Disease Guideline/Consensus

Treatment Recommendations For Late-Onset Pompe Disease

Authoring Society: American Association of Neuromuscular and Electrodiagnostic Medicine
Published: October 21, 2011

Part 2 – Recent FDA Approvals

NEXVIAZYME^® (avalglucosidase alfa-ngpt)
- Sanofi-Genzyme
- FDA approved on August 6, 2021
- NEXVIAZYME is a hydrolytic lysosomal glycogen-specific enzyme indicated for the treatment of patients 1 year of age and older with late-onset Pompe disease (lysosomalacid alpha-glucosidase [GAA] deficiency).

POMBILITI™ (cipaglucosidase alfa-atga) + OPFOLDA™ (miglustat)
- Amicus Therapeutics
- FDA Approved on September 28, 2023
- POMBILITI™ is a bis‑M6P‑enriched ERT that was designed for improved binding and uptake into the muscle cells.
- OPFOLDA™ is the first and only oral enzyme stabilizer used in the treatment of LOPD. OPFOLDA stabilizes POMBILITI within the bloodstream.

Thank you for taking the time to review the current Pompe disease consensus statement, as well as the recent major changes and FDA approvals that have occurred since publication. We value your feedback and would like to hear your suggestions for future topics to be covered in our guideline series. Please feel free to contact us with any ideas or questions you may have. We look forward to hearing from you. Until next time…

Guideline Central Blog

Pompe Disease – What’s Changed?