Dysferlinopathies are recessive muscular dystrophies due to mutations in the gene for dysferlin, a transmembrane protein involved in membrane repair. The most frequent of these disorders are limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi’s distal muscular dystrophy.
Preclinical studies for a future gene therapy trial
- Reference laboratory: Genethon
The strategy developed by Genethon depends on the administration of an AAV (Adeno Associated Virus) carrying a therapeutic gene. Genethon has developed original methods for the transfer of this very large gene in collaboration with Professor Nicolas Levy’s group (INSERM UMR-S 910). Preclinical studies are in progress in order to define the strategy for a future clinical trial.
“Clinical Outcome Study for Dysferlinopathy”: international study on the clinical evolution of dysferlinopathies
- Reference laboratory: Institute of Myology
- Partner: Jain Foundation
The “Clinical Outcome Study for Dysferlinopathy” is to determine the clinical outcome measures required for future clinical trials, characterize the disease progression of dysferlinopathy and collect biological samples for the identification of disease markers that are needed to non-invasively monitor the disease during clinical trials. Without this information, effective clinical trials cannot be performed.
For further information: clinical outcome study for dysferlinopathy project webpage