Comparison of recent pivotal recommendations for the diagnosis and treatment of late-onset Pompe disease using diagnostic nodes—the Pompe disease burden scale

Pompe disease is a rare autosomal-recessive disorder characterised by limb-girdle myopathy and respiratory weakness in the late-onset form (LOPD). Various mutations in the acid alpha-glucosidase gene lead to toxic lysosomal and extra-lysosomal glycogen accumulation in all organs due to ineffective g...

Celý popis

Uloženo v:

Podrobná bibliografie
Vydáno v:	Journal of neurology Ročník 266; číslo 8; s. 2010 - 2017
Hlavní autoři:	Hundsberger, Thomas, Schoser, Benedikt, Leupold, Daniela, Rösler, Kai Michael, Putora, Paul Martin
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Berlin/Heidelberg Springer Berlin Heidelberg 01.08.2019 Springer Nature B.V
Témata:	Age of Onset Cost of Illness Decision Trees Diagnosis Discordance Enzyme Replacement Therapy - methods Enzyme Replacement Therapy - trends Enzymes Glycogen Glycogen Storage Disease Type II - diagnosis Glycogen Storage Disease Type II - epidemiology Glycogen Storage Disease Type II - therapy Hereditary diseases Humans Medicine Medicine & Public Health Myopathy Neurology Neuroradiology Neurosciences Original Communication Practice Guidelines as Topic - standards Respiratory function Treatment Outcome α-Glucosidase Pompe disease ERT initiation Enzyme replacement therapy Diagnostic nodes ERT cessation Guidelines
ISSN:	0340-5354, 1432-1459, 1432-1459
On-line přístup:	Získat plný text
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!

Popis
Shrnutí:	Pompe disease is a rare autosomal-recessive disorder characterised by limb-girdle myopathy and respiratory weakness in the late-onset form (LOPD). Various mutations in the acid alpha-glucosidase gene lead to toxic lysosomal and extra-lysosomal glycogen accumulation in all organs due to ineffective glycogen clearance by the encoded enzyme. Only one randomized trial demonstrated beneficial effects of respiratory function and meters walked in the 6-min walking test with enzyme replacement therapy (ERT). These results were confirmed in several retrospective and prospective observations and in meta-analyses. Due to a potential lifelong therapy, moderate efficacy and high treatment costs time of ERT initiation and cessation is an ongoing matter of debate. So far, several national and international recommendations have been published with different criteria concerning diagnosis, initiation and cessation of ERT in LOPD. We therefore formally analysed recent published recommendations and consensus statements of LOPD using diagnostic nodes (DODES) as a special software tool. With DODES, an objective analysis becomes possible if the content of the recommendations is represented as algorithms using cross-compatible elements. This analysis formally disclosed both, areas of great heterogeneity and concordance for the diagnosis and management of LOPD and paved the way for a Pompe disease burden scale focussing on ERT initiation. According to this investigation further clinical research should concentrate on ERT in pre-symptomatic and severely affected LOPD patients and on cessation criteria for ERT as these issues are areas of international uncertainty and discordance.
Bibliografie:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 ObjectType-Article-2 ObjectType-Feature-1 ObjectType-Review-3 content type line 23
ISSN:	0340-5354 1432-1459 1432-1459
DOI:	10.1007/s00415-019-09373-2