Comprehensive review of recent advances in Pompe disease: pathogenesis, management, and future directions - PubMed
3 days ago
- #digital health technology
- #Pompe disease
- #enzyme replacement therapy
- Pompe disease is an autosomal recessive lysosomal storage disorder caused by deficiency of acid alpha-glucosidase (GAA).
- Recent advances include newborn screening (NBS), novel biomarkers, next-generation enzyme replacement therapies (ERTs), gene therapy, and digital health technologies (DHTs).
- Next-generation ERTs like avalglucosidase alfa and cipaglucosidase alfa combined with miglustat have improved outcomes and safety.
- Emerging strategies such as transferrin receptor-mediated ERT and muscle-targeted adeno-associated virus (AAV) vectors show promise for overcoming current limitations, including CNS involvement.
- Digital health technologies (DHTs) enable sensitive detection of motor impairment even in presymptomatic stages.
- Challenges remain in early detection, long-term management, and healthcare resource allocation.
- Future success requires integrated strategies combining NBS, innovative therapeutics, sensitive monitoring, and supportive policies.