Open AccessUnmet needs and evolving treatment for limb girdle muscular dystrophies
Author(s) -
Eric R. Pozsgai,
Danielle Griffin,
Rachael A. Potter,
Zarife Sahenk,
Kelly Lehman,
Louise R. RodinoKlapac,
Jerry R. Mendell
Publication year - 2021
Publication title -
neurodegenerative disease management
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.674
H-Index - 23
eISSN - 1758-2032
pISSN - 1758-2024
DOI - 10.2217/nmt-2020-0066
Subject(s) - limb girdle muscular dystrophy , muscular dystrophy , medicine , clinical trial , physical therapy , physical medicine and rehabilitation , intensive care medicine , pathology , genetics , mutation , gene , biology
Limb-girdle muscular dystrophies (LGMDs) represent a major group of muscle disorders. Treatment is sorely needed and currently expanding based on safety and efficacy adopting principles of single-dosing gene therapy for monogenic autosomal recessive disorders. Gene therapy has made in-roads for LGMD and this review describes progress that has been achieved for these conditions. This review first provides a background on the definition and classification of LGMDs. The major effort focuses on progress in LGMD gene therapy, from experimental studies to clinical trials. The disorders discussed include the LGMDs where the most work has been done including calpainopathies (LGMD2A/R1), dysferlinopathies (LGMD2B/R2) and sarcoglycanopathies (LGMD2C/R5, LGMD2D/R3, LGMD2E/R4). Early success in clinical trials provides a template to move the field forward and potentially apply emerging technology like CRISPR/Cas9 that may enhance the scope and efficacy of gene therapy applied to patient care.