Limb-girdle muscular dystrophies
RSS feedFirst clinical results of a gene therapy for the treatment of FKRP-related LGMD
The initial results of the ATA-100 gene therapy clinical trial for the treatment of limb-girdle muscular dystrophy linked to the FKRP gene (LGMD2I/R9) were presented at the ESGCT congress in Brussels on 27 October. This multicentre Phase 1b/2b trial is designed to assess the safety and efficacy of a gene therapy combining an AAV vector … [Read more]
A European study clarifies the cardiac phenotype of children with muscular laminopathy
European neuropaediatricians and cardiologists have compiled the clinical and paraclinical data, in particular cardiac data, of a large cohort of 28 children with various phenotypes of laminopathy: 13 presented with an Emery-Dreifuss type phenotype, 11 with LMNA-related congenital muscular dystrophy (L-CMD), two with limb-girdle muscular dystrophy and two with moderate muscular deficiency, During follow-up, six … [Read more]
Galectin-1: an innovative therapeutic approach in dysferlinopathies
American researchers have developed a therapy aimed at correcting the phenotypes observed in dysferlinopathies (Miyoshi-type distal myopathy and LGMD type R2). Galectin-1, a beta-like galactoside binding protein, was genetically engineered and injected into model mice: galectin-1 is thought to play a role in membrane repair and inflammation, two mechanisms involved in dysferlinopathies; in treated mice, … [Read more]
The phenotype distinction between Myoshi distal myopathy and LGMD R2 is no longer justifiable in dysferlinopathy
Dysferlinopathy encompasses several clinical entities, having in common a deficit in dysferlin, a protein involved in muscle fibre membrane repair mechanisms. Initially reduced simply to Myoshi distal myopathy, the phenotype spectrum was rapidly extended to pure proximal forms such as limb-girdle muscular dystrophy (LGMD) R2, and especially to mixed proximal/distal forms. Dysferlinopathy is transmitted in … [Read more]
