Abstract
Spinal muscular atrophy (SMA) is the most common genetic disease leading to infant mortality. This neuro-muscular disorder is caused by the loss or mutation of the telomeric copy of the 'survival of motor neuron' (Smn) gene, termed SMN1. Loss of SMN1 leads to reduced SMN protein levels, inducing degeneration of motor neurons (MN) and progressive muscle weakness and atrophy. Gene therapy, consisting of reintroducing SMN1 in the MNs, is an attractive approach for SMA. We showed the most efficient rescue of SMA mice to date after a single intravenous injection of an AAV9 expressing SMN1, highlighting the considerable potential of this method for the treatment of human SMA. Recently, a startup led by the Dr Kaspar decided to test this experimental approach in children with SMA type 1. Dr Mendell, in charge of this clinical project, showed a very significant increase of the lifespan and motor function of the patients (until 4 years) after a single injection of AAV9-SMN1 (named ZolgenSMA®) into an arm or leg vein. This gene therapy treatment obtained a marketing authorization by the FDA in May 24 and is now the first efficient therapy for neuromuscular disease.
Highlights
Nous avons utilisé cette approche pour le traitement de la Spinal muscular atrophy (SMA) en construisant un vecteur scAAV9 contenant une ou plusieurs copies du gène SMN1 (AAV9-SMN) [9] et en l’injectant par voie intraveineuse un jour après la naissance à des souris modèle de SMA [10] (Figure 1)
Spinal muscular atrophy (SMA) is the most common genetic disease leading to infant mortality
This neuro-muscular disorder is caused by the loss or mutation of the telomeric copy of the ‘survival of motor neuron’ (Smn) gene, termed SMN1
Summary
> L’amyotrophie spinale ou SMA est la maladie génétique la plus fréquente menant à la mortalité infantile. Une jeune société de biotechnologie, dirigée par le Dr Kaspar, a testé cette approche expérimentale chez de jeunes patients atteints de SMA type 1. Qui a obtenu l’AMM par la FDA le 24 mai 2019, est actuellement la première thérapie génique efficace dans les maladies neuromusculaires.
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