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Med Sci (Paris). 2020 Feb;36(2):137-140. doi: 10.1051/medsci/2020010. Epub 2020 Mar 4.

[SMA: from gene discovery to gene therapy].

[Article in French; Abstract available in French from the publisher]

Author information

Groupe Biothérapies des maladies du motoneurone, Centre de Recherche en Myologie, Sorbonne Université - UMRS974 Inserm - Institut de Myologie, Faculté de Médecine, 105 boulevard de l'Hôpital, 75013 Paris, France.


in English, French

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.


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