title: Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel.
abstract: 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.
authors.affiliation: 1Department of Paediatrics,McMaster University Medical Centre,Hamilton,Ontario,Canada.
authors.forename: Mark
authors.initials: M
authors.lastname: Tarnopolsky
authors.affiliation: 4Department of Medicine (Neurology),University of Toronto,Toronto,Ontario,Canada.
authors.forename: Hans
authors.initials: H
authors.lastname: Katzberg
authors.affiliation: 6Department of Medicine,Respiratory Division,McGill University,Montreal,Québec,Canada.
authors.forename: Basil J
authors.initials: BJ
authors.lastname: Petrof
authors.affiliation: 7Division of Endocrinology,Department of Medicine,University of British Columbia,Vancouver,British Columbia,Canada.
authors.forename: Sandra
authors.initials: S
authors.lastname: Sirrs
authors.affiliation: 8Departments of Paediatrics,Pathology (Neuropathology) and Clinical Neurosciences,Alberta Children's Hospital,Calgary,Alberta,Canada.
authors.forename: Harvey B
authors.initials: HB
authors.lastname: Sarnat
authors.affiliation: 9Department of Paediatric Cardiology,University of Calgary,Alberta Children's Hospital,Calgary,Alberta,Canada.
authors.forename: Kimberley
authors.initials: K
authors.lastname: Myers
authors.affiliation: 10Faculty of Medicine,Laval University,Québec City,Québec,Canada.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Dupré
authors.affiliation: 12Neurology Division,Department of Medicine,University Health Network/Toronto Western Hospital,Toronto,Ontario,Canada.
authors.forename: Dubravka
authors.initials: D
authors.lastname: Dodig
authors.affiliation: 13Montreal Neurological Institute and Hospital,Québec City,Québec,Canada.
authors.forename: Angela
authors.initials: A
authors.lastname: Genge
authors.affiliation: 14Clinical Neurological Sciences,Western University,London Health Sciences Centre,London,Ontario,Canada.
authors.forename: Shannon L
authors.initials: SL
authors.lastname: Venance
authors.affiliation: 15Department of Clinical Neurosciences,University of Calgary,Calgary,Alberta,Canada.
authors.forename: Lawrence
authors.initials: L
authors.lastname: Korngut
authors.affiliation: 16Department of Paediatrics,University of Toronto,Toronto,Ontario,Canada.
authors.forename: Julian
authors.initials: J
authors.lastname: Raiman
authors.affiliation: 18Department of Medical Genetics,University of Calgary,Calgary,Alberta,Canada.
authors.forename: Aneal
authors.initials: A
authors.lastname: Khan
mesh_terms: D002170:Canada; D019468:Disease Management; D055317:Evidence-Based Practice / Q000379:methods; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000628:therapy*; D006801:Humans
keywords: Pompe disease; guidelines; review