SPINAL MUSCULAR ATROPHY: CLINICAL CHARACTERIZATION AND EVOLUTION AFTER TREATMENT WITH NEW MODIFYING THERAPIES

Objectives: Conducting a retrospective analysis of the clinical characteristics and evolution of patients with spinal muscular atrophy (SMA) type 1 and 2 which were treated with the new modifying therapies. Methods: A descriptive, cross-sectional and retrospective study was conducted with a target population of patients with a genetic diagnosis of SMA treated with nusinersen or onasemnogene abeparvovec-xioi (OAX) who were monitored by the external consultation services of pediatric pulmonology in a tertiary hospital. The data were collected from their electronic clinical records. Results: The study describes 6 patients with ages from 14 months to 11 years, 4 of whom had a diagnosis of SMA type 1 and 2 with a diagnosis of SMA type 2. With regard to their treatment, 3 patients received nusinersen, 2 patients received OAX, and 1 patient received OAX followed by nusinersen. The number of emergency consultations due to respiratory infections per year of treatment was 0.3/year for patients treated with OAX and 0.75/year for patients treated exclusively with nusinersen. None of the patients treated with OAX have required hospitalization for a respiratory infection to date. With regard to respiratory support, two patients had a tracheostomy, and the rest received nocturnal noninvasive mechanical ventilation as a preventive measure. Two of the patients had undergone gastrostomy. The patients treated with OAX have shown an improvement in their motor functions according to the CHOP INTEND score. Conclusions: The description of different real-life cohorts will make it possible to homogenize the management of these patients and provide realistic expectations regarding the evolution of their condition. Supplementary Material File (sma.docx) - Download - 37.23 KB Information & Authors Information Version history Copyright This work is licensed under a Non Exclusive No Reuse License.

Authors Metrics & Citations Metrics Article Usage 201views 115downloads Citations Download citation Jesús Martín-Valbuena, MARIA GARRIDO-MARTIN, A. Madruga Zaera, et al. SPINAL MUSCULAR ATROPHY: CLINICAL CHARACTERIZATION AND EVOLUTION AFTER TREATMENT WITH NEW MODIFYING THERAPIES. Authorea. 13 February 2025. DOI: https://doi.org/10.22541/au.173941035.57379117/v1 DOI: https://doi.org/10.22541/au.173941035.57379117/v1 If you have the appropriate software installed, you can download article citation data to the citation manager of your choice. Simply select your manager software from the list below and click Download. For more information or tips please see 'Downloading to a citation manager' in the Help menu.