A new hope for curing Amyotrophic lateral sclerosis
The “Téléthon” is organized this weekend everywhere in France. Thanks to this annual event, major research programs have been launched over 30 years and provided great advances to better know and cure devastating genetic diseases like Duchenne Muscular Dystrophy or Spinal Muscular Atrophy.
As an example of the excellence of this research, Dr. Maria Grazia Biferi (Centre of Research in Myology (CRM), French Institute of Myology, Paris), Dr. Martine Barkats and their colleagues successfully designed, conceived and optimized a gene therapy protocol for ALS (Amyotrophic Lateral Sclerosis). This disease is the most common adult-onset disorder affecting spinal motor neurons and is characterized by severe paralysis and death within 3–5 years after diagnosis. Unfortunately, no treatment is currently available to offer a robust survival benefit or at least a significant retardation of symptom onset.
In this article, Dr Maria Grazia Biferi successfully reported an innovative molecular strategy for inducing substantial, widespread, and sustained reduction of mutant human SOD1, which is accumulated in the motor neurons of 12% of fALS cases. Adeno-associated virus serotype rh10 vectors (AAV10) were used to mediate exon skipping of hSOD1 exon2, generating a premature termination codon. The injection of the therapeutic vector increased the survival of SOD1G93A mice, injected either at birth or at 50 days of age (by 92% and 58%, respectively), and prevented weight loss and the decline of neuromuscular function.
These incredible results support the translation of this technology to the treatment of this as yet incurable disease.
Dr Biferi and her team have been awarded of the Avi Kremer ALS Treatment Prize from Prize4Life for this work.
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