[The SMA France national registry: already encouraging results]. / Le registre national SMA France : des résultats déjà encourageants.

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 1st, 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.

TITLE: Le registre national SMA France : des résultats déjà encourageants. ABSTRACT: L'amyotrophie spinale proximale liée au gène SMN1 (SMA) est une maladie neuromusculaire invalidante dont l'histoire naturelle a été sensiblement modifiée ces dernières années du fait de l'apparition de thérapies innovantes. Le registre SMA France a été mis en place en 2020 afin de mieux connaître la pathologie et répondre au besoin de données en vie réelle induit par l'arrivée de ces nouveaux médicaments. Le but est aussi d'essayer d'identifier les meilleures stratégies thérapeutiques et d'améliorer in fine la prise en charge de ces patients. Ce registre a le statut d'entrepôt de données de santé et collecte des informations rétrospectives et prospectives de patients SMA de tous types, génétiquement confirmés, traités ou non par thérapies innovantes, et suivis dans les centres du réseau FILNEMUS. La population-cible est estimée à 1 000 patients, dont la moitié d'âge pédiatrique. Au 1er octobre 2021, 666 patients ont été inclus dans la base (357 enfants et 309 adultes) par 44 des 51 centres spécialisés du réseau neuromusculaire FILNEMUS ayant accepté de participer. Parmi ces patients, 150 étaient de type 1 (22 %), 278 (42 %) de type 2, 232 (35 %) de type 3, et 4 de type 4 (1 %).

Fast characterization of solid organic waste content with near infrared spectroscopy in anaerobic digestion.

The development of anaerobic digestion involves both co-digestion of solid wastes and optimization of the feeding recipe. Within this context, substrate characterisation is an essential issue. Although it is widely used, the biochemical methane potential is not sufficient to optimize the operation of anaerobic digestion plants. Indeed the biochemical composition in carbohydrates, lipids, proteins and the chemical oxygen demand of the inputs are key parameters for the optimisation of process performances. Here we used near infrared spectroscopy as a robust and less-time consuming tool to predict the solid waste content in carbohydrates, lipids and nitrogen, and the chemical oxygen demand. We built a Partial Least Square regression model with 295 samples and validated it with an independent set of 46 samples across a wide range of solid wastes found in anaerobic digestion units. The standard errors of cross-validation were 90mgO2⋅gTS-1 carbohydrates, 2.5∗10-2g⋅gTS-1 lipids, 7.2∗10-3g⋅gTS-1 nitrogen and 99mgO2⋅gTS-1 chemical oxygen demand. The standard errors of prediction were 53mgO2⋅gTS-1 carbohydrates, 3.2∗10-2g⋅gTS-1 lipids, 8.6∗10-3g⋅gTS-1 nitrogen and 83mgO2⋅gTS-1 chemical oxygen demand. These results show that near infrared spectroscopy is a new fast and cost-efficient way to characterize solid wastes content and improve their anaerobic digestion monitoring.