Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel

Area of Science:

• Biochemistry
• Genetics
• Rare Diseases

Background:

• Pompe disease is a lysosomal storage disorder resulting from acid alpha-glucosidase deficiency.
• It leads to progressive skeletal muscle and respiratory weakness, potentially affecting the heart (cardiomyopathy).

Purpose of the Study:

• To systematically evaluate the literature quality for Pompe disease diagnosis and management.
• To formulate evidence-based guidelines and recommendations for clinical practice.

Main Methods:

• Comprehensive literature review including published literature, clinical trials, cohort studies, and systematic reviews.
• Application of GRADE classification to assess the quality of evidence for treatment decisions.

Main Results:

• Seven management guidelines were developed based on the quality of available evidence.
• Six additional recommendations were formulated based on best clinical practices where data was insufficient for guidelines.

Conclusions:

• Evidence-based guidelines are crucial for managing rare diseases like Pompe disease.
• Treatment decisions must carefully consider the quality of supporting evidence due to challenges in rare disease research.