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

  • Mark Tarnopolsky (a1) (a2) (a3), Hans Katzberg (a4) (a5), Basil J. Petrof (a6), Sandra Sirrs (a7), Harvey B. Sarnat (a8), Kimberley Myers (a9), Nicolas Dupré (a10) (a11), Dubravka Dodig (a12), Angela Genge (a13), Shannon L. Venance (a14), Lawrence Korngut (a15), Julian Raiman (a16) (a17) and Aneal Khan (a18) (a19)...

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.

Diagnostic et prise en charge de la maladie de Pompe : lignes directrices fondées sur des données probantes, élaborées par un comité d’experts. La maladie de Pompe est une maladie de surcharge lysosomale due à un déficit en alpha-glucosidase acide. Les patients présentent une faiblesse des muscles squelettiques ainsi qu’une atteinte respiratoire, avec ou sans cardiomyopathie. Le but de notre revue était d’évaluer systématiquement la qualité des données de la littérature sur ce sujet et d’élaborer des lignes directrices fondées sur des données probantes pour le diagnostic et la prise en charge des patients atteints de la maladie de Pompe. Nous avons procédé à une revue de la littérature incluant les essais cliniques, les études de cohorte et les revues systématiques. Sept lignes directrices de traitement ont été élaborées concernant les décisions fondamentales de traitement et nous les avons classées au moyen de la méthodologie GRADE (Grading of Recommendations Assessment, Development and Evaluation) évaluant la qualité des données de la littérature. De plus, nous avons émis 6 recommandations fondées sur des pratiques cliniques exemplaires, mais pour lesquelles les données étaient insuffisantes pour établir une ligne directrice. L’étude des résultats du traitement de maladies rares constitue un défi à cause du petit nombre de patients atteints de ces maladies. Cependant c’est la raison pour laquelle nous croyons qu’il est important de considérer la qualité des données disponibles afin de prendre des décisions de traitement éclairées.

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Corresponding author

Correspondence to: Aneal Khan, Associate Professor of Medical Genetics and Paediatrics, University of Calgary, Alberta Children’s Hospital, 2888 Shaganappi Trail NW, Calgary, Alberta, Canada T3B 6A8. Email: khaa@ucalgary.ca.

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