Pompe Disease Insights

Recent research on Pompe disease highlights advancements in treatment options, including enzyme replacement therapy (ERT) and emerging gene therapy approaches.

Roger (2025) While ERT remains the only FDA-approved treatment, gene therapy aims to address the genetic root cause by introducing healthy GAA genes to enable enzyme production (Roger, 2025).

These therapies focus on improving muscle function and reducing glycogen accumulation, though challenges like neurological complications persist.

Ongoing research explores enhanced treatments such as chaperone therapy and stem cell-based approaches to stabilize enzymes or deliver functional genes.

Current clinical trials aim to address unmet needs, including immunogenicity and long-term efficacy, offering hope for improved quality of life and expanded therapeutic options for patients.