Pompe disease is a lysosomal storage disorder caused by a deficiency of the
enzyme acid alpha-glucosidase. Patients have skeletal muscle and respiratory
weakness with or without cardiomyopathy. The objective of our review was to
systematically evaluate the quality of evidence from the literature to
formulate evidence-based guidelines for the diagnosis and management of
patients with Pompe disease. The literature review was conducted using
published literature, clinical trials, cohort studies and systematic
reviews. Cardinal treatment decisions produced seven management guidelines
and were assigned a GRADE classification based on the quality of evidence in
the published literature. In addition, six recommendations were made based
on best clinical practices but with insufficient data to form a guideline.
Studying outcomes in rare diseases is challenging due to the small number of
patients, but this is in particular the reason why we believe that informed
treatment decisions need to consider the quality of the evidence.