Limb-girdle muscular dystrophies
RSS feedOverview of neuromuscular diseases
After a brief reminder of the structure of the motor unit and the various modes of inheritance, this document provides short descriptions of the neuromuscular diseases that are part of our scope at AFM-TĂ©lĂ©thon, as well as how to manage and treat them. For each group of diseases, as well as in the motor unit … [Read more]
Atamyo Therapeutics obtains authorisation to launch a gene therapy clinical trial in limb-girdle muscular dystrophy linked to SGCG
Following several proofs of concept, Atamyo Therapeutics, a spin-off from Geenethon, has obtained authorisation to start a new gene therapy trial in patients suffering from limb-girdle muscular dystrophy (LGMD) R5 linked to SGCG (gamma-sarcoglycanopathy). Its aim is to test the safety, pharmacodynamics and efficacy of ATA-200, a product resulting from the work of Isabelle Richard, … [Read more]
Gene therapy shows encouraging results in humans for limb-girdle muscular dystrophy linked to SGCB
An ongoing clinical trial sponsored by Sarepta Therapeutics is investigating the safety and efficacy of SRP-9003 (rAAVrh74. MHCK7.hSGCB vector) following systemic infusion in six patients with SGCB-related limb-girdle muscular dystrophy (LGMD R4). Two years after administration of a minimum dose of 1.85 x 1013 vg/kg, analyses showed : the product was fairly well tolerated, with … [Read more]
Combination of ribitol and gene therapy shows synergistic effects in LGMD R9 mouse models
American researchers have sought to combine two therapeutic approaches in mouse models of FKRP-related limb-girdle muscular dystrophy type R9 (LGMD R9): oral supplementation with 5% ribitol at five weeks of age, followed four weeks later by administration of a dose of 1e13 vg/kg (low) or 5e13 vg/kg (high) of gene therapy (AAV9-FKRP). Compared with mice … [Read more]
A founder effect identified in South Indian patients with beta-sarcoglycanopathy
Beta sarcoglycanopathy is one of the four forms of limb-girdle myopathy associated with sarcoglycan deficiency. Indian clinicians have just identified an outbreak of this disease in their country: 14 patients from 13 unrelated families in southern India (the states of Karnataka, Tamil Nadu and Andra Pradesh) were diagnosed with limb-girdle muscular dystrophy with beta-sarcoglycan deficiency, … [Read more]
First 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:Â galectin-1 is thought to play a role in membrane repair and inflammation, two mechanisms involved in dysferlinopathies;Â 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]
