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The SMA France National Registry: Already Encouraging Results

key information

source: Medecine sciences : M/S

year: 2021

authors: Lemoine M,Gomez M,Grimaldi L,Urtizberea JA,Quijano-Roy S

summary/abstract:

Spinal muscular atrophy is a debilitating neuromuscular disease due to the deletion of the SMN1 gene (SMA). The emergence of innovative targeted therapies changed the natural history of this condition. The French registry of SMA (Registre SMA France) was launched in 2020 to obtain a better knowledge of the pathology. The goal of the register was also to meet the need for real-life data regarding the arrival of these innovative therapies in order to identify the best therapeutic strategies and to improve patient care. The registry collects retrospective and prospective data of all genetically confirmed SMA, treated or not treated, in reference centers belonging to the national neuromuscular network (FILNEMUS). The estimated enrollment is 1,000 patients (50% children). On October 1, 666 patients have been enrolled (357 children and 309 adults) by 44 out of 51 open centers of the national network (FILNEMUS) with: 150 type 1 (22%); 278 type 2 (42%), 232 type 3 (35%) and 4 type 4 (1%) respectively.

organization: URC APHP Paris-Saclay, France.

DOI: 10.1051/medsci/2021187

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