The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Acid alpha-glucosidase deficiency
Acid maltase deficiency
Glycogen storage disease (GSD) type II
Lysosomal storage disease
Pompe disease
Journal
Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602
Informations de publication
Date de publication:
01 Nov 2024
01 Nov 2024
Historique:
received:
02
01
2024
accepted:
18
09
2024
medline:
1
11
2024
pubmed:
1
11
2024
entrez:
1
11
2024
Statut:
epublish
Résumé
Clinical pathway recommendations (CPR) are based on existing guidelines and deliver a short overview on how to deal with a specific diagnosis, resulting therapy and follow-up. In this paper we propose a methodology for developing CPRs for Pompe disease, a metabolic myopathy caused by deficiency of lysosomal acid alpha-glucosidase. The CPR document was developed within the activities of the MetabERN, a non-profit European Reference Network for Metabolic Diseases established by the European Union. A working group was selected among members of the MetabERN lysosomal storage disease subnetwork, with specific expertise in the care of Pompe disease, and patient support group representatives. The working strategy was based on a systematic literature search to develop a database, followed by quality assessment of the studies selected from the literature, and by the development of the CPR document according to a matrix provided by MetabERN. Quality assessment of the literature and collection of citations was conducted according to the AGREE II criteria and Grading of Recommendations, Assessment, Development and Evaluation methodology. General aspects were addressed in the document, including pathophysiology, genetics, frequency, classification, manifestations and clinical approach, laboratory diagnosis and multidisciplinary evaluation, therapy and supportive measures, follow-up, monitoring, and pregnancy. The CPR document that was developed was intended to be a concise and easy-to-use tool for standardization of care for patients among the healthcare providers that are members of the network or are involved in the care for Pompe disease patients.
Identifiants
pubmed: 39482698
doi: 10.1186/s13023-024-03373-w
pii: 10.1186/s13023-024-03373-w
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
408Investigateurs
Ivo Baric
(I)
Spyros Batzios
(S)
Nadia Belmatoug
(N)
Andrea Bordugo
(A)
Annet M Bosch
(AM)
Anais Brassier
(A)
Alberto Burlina
(A)
David Cassiman
(D)
Brigitte Chabrol
(B)
Efstathia Chronopoulou
(E)
Maria Luz Couce-Pico
(ML)
Niklas Darin
(N)
Anibh M Das
(AM)
Francois G Debray
(FG)
Patrick Deegan
(P)
Luisa M de Abreu Freire Diogo Matos
(LM)
Javier De Las Heras Montero
(J)
Maja Di Rocco
(M)
Dries Dobbelaere
(D)
Francois Eyskens
(F)
Ana Ferreira
(A)
Ana M Gaspar
(AM)
Serena Gasperini
(S)
Antonio González-Meneses López
(AG)
Salvatore Grosso
(S)
Nathalie Guffon-Fouilhoux
(N)
Julia Hennermann
(J)
Tarekegn G Hiwot
(TG)
Simon Jones
(S)
Sandra Kingma
(S)
Veroniki Komninaka
(V)
Elena Martín-Hernández
(E)
Esmeralda Martins
(E)
Diana Miclea
(D)
György Pfliegler
(G)
Esmeralda Rodrigues
(E)
Dariusz Rokicki
(D)
Dominique Roland
(D)
Frank Rutsch
(F)
Alessandro Salviati
(A)
Ivailo Tournev
(I)
Kurt Ullrich
(K)
Peter M van Hasselt
(PM)
Suresh Vijay
(S)
Natalie Weinhold
(N)
Peter Witters
(P)
Jiri Zeman
(J)
Informations de copyright
© 2024. The Author(s).
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