Introduction: Sarcoglycanopathy is the name shared by four rare autosomal recessive muscular dystrophies (LGMD2 C-F) that are usually characterized by early onset and rapid progression and an accompanying loss of independent walking since adolescence. Respiratory problems are frequent, and dilated cardiomyopathy may occur, although milder forms have also been described. However, sarcoglycanopathy is currently incurable, and we herein aim to describe the state of the art in the field of treatments for this disease. Areas covered: We summarize the pathogenesis of sarcoglycanopathy, with particular emphasis on the molecular mechanism(s) underlying the disease. We describe the very few published cases of symptomatic treatment with steroids and the gene therapy approaches that have entered phase I/II clinical trials. We then present emerging novel therapeutic strategies explored at the preclinical stage that are expected to replace the defective gene (cell therapy), address general effects of the disease, or address the primary events of the pathogenic mechanism (small molecule-based therapy). Expert opinion: Anti-inflammatory strategies, which are at present empirically applied, warrant further exploration. Although promising and currently being evaluated in clinical trials, gene therapy remains associated with concerns and requires additional confirmation. Thus, novel strategies targeting different aspects of the disease pathogenic mechanism are highly anticipated.

Emerging therapeutic strategies for sarcoglycanopathy

CAROTTI, MARCELLO;FECCHIO, CHIARA;SANDONA', DORIANNA
2017

Abstract

Introduction: Sarcoglycanopathy is the name shared by four rare autosomal recessive muscular dystrophies (LGMD2 C-F) that are usually characterized by early onset and rapid progression and an accompanying loss of independent walking since adolescence. Respiratory problems are frequent, and dilated cardiomyopathy may occur, although milder forms have also been described. However, sarcoglycanopathy is currently incurable, and we herein aim to describe the state of the art in the field of treatments for this disease. Areas covered: We summarize the pathogenesis of sarcoglycanopathy, with particular emphasis on the molecular mechanism(s) underlying the disease. We describe the very few published cases of symptomatic treatment with steroids and the gene therapy approaches that have entered phase I/II clinical trials. We then present emerging novel therapeutic strategies explored at the preclinical stage that are expected to replace the defective gene (cell therapy), address general effects of the disease, or address the primary events of the pathogenic mechanism (small molecule-based therapy). Expert opinion: Anti-inflammatory strategies, which are at present empirically applied, warrant further exploration. Although promising and currently being evaluated in clinical trials, gene therapy remains associated with concerns and requires additional confirmation. Thus, novel strategies targeting different aspects of the disease pathogenic mechanism are highly anticipated.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11577/3230727
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