Clinical guidelines for late-onset Pompe disease

Area of Science:

• Neurology
• Genetics
• Metabolic Disorders

Background:

• Pompe disease (glycogenosis storage disease type II) was previously incurable with only palliative care.
• The advent of recombinant human alpha-glucosidase enzymatic replacement therapy (ERT) marked a significant advancement.
• Late-onset Pompe disease (LOPD) develops after one year of age and requires specific management strategies.

Purpose of the Study:

• To provide a reference guide for the diagnosis, follow-up, and treatment of LOPD.
• To outline expert recommendations from Spanish specialists.
• To emphasize the importance of early and accurate diagnosis and timely ERT initiation.

Main Methods:

• Dried blood spots (DBS) method for initial diagnosis screening.
• Enzymatic activity study in isolated lymphocytes for diagnostic confirmation.
• Alpha-glucosidase gene mutation analysis for definitive diagnosis.

Main Results:

• ERT is effective in improving or stabilizing motor function in LOPD patients.
• ERT demonstrates efficacy in improving respiratory function.
• Expert recommendations emphasize initiating ERT at the onset of LOPD symptoms.

Conclusions:

• The guide provides essential recommendations for managing LOPD based on expert consensus.
• Early diagnosis through DBS and confirmation via enzyme or genetic testing is critical.
• Timely initiation of ERT is key to improving patient outcomes in LOPD.