P78 CuidAME: Three-year Spanish longitudinal project to collect data on patients with spinal muscular atrophy

• Published in: Neuromuscular disorders : NMD 2023-10, Vol.33, p.S136-S136
• Main Authors: Nascimento, A., Exposito, J., Segovia-Simón, S., Puig-Ram, C., Fernández - Cuesta, J., Garcia, M Fernandez, Lungo, C., Pitarch-Castellano, I., Pascual, S., Marco, C., Gonzalez, L., Povedano, M., Ballester, A., Martinez, E., Pareja, A., López-Lobato, M., Alvarez, M., Grimalt, M., Costa, J.
• Format: Article
• Language: English
• ISSN: 0960-8966; 1873-2364
• DOI: 10.1016/j.nmd.2023.07.280

Natural history of SMA has changed due to improvement in treatment and better disease management. However, the real-world evidence on the impact of new treatments remains unknown and registries could be a useful tool to generate Real-World data. The aim of CuidAME Project is to collect Longitudinal Clinical Data of Spanish SMA patients. The SMArtcare platform is used to collect retrospective and prospective data of SMA patients, regardless of their treatment regimen. The data is collected during routine clinical visits and updated every eight months. The data collected includes the main characteristics of the onset and evolution of the disease, genetic diagnosis, treatment and motor function assessments. The estimated sample size for this project is 450 patients collected in approximately 30 sites and followed for 5 years. We analyzed the baseline data collected for 338 patients followed at 16 different hospitals. The analysis showed that 22% of patients were SMA type 1, 49% type 2, 26% type 3, 1% type 4 and 1% were presymptomatic. 281 patients (84%) were treated: 80% received nusinersen; 2% gene therapy; 4% risdiplam; and 13% received treatment under clinical trial conditions. Treated patients’ distribution was: 97% type 1; 80% and 82% for type 2 and 3 respectively. 48 % of patients were female; 35% were adults (older than 18 years). Mean age at baseline visit was 3,7y in type 1; 17y in type 2; 31 y in type 3 and 45,1 in type 4 and range for total population was (0-76y). In the paediatric population, SMA distribution was: 33% of patients were SMA type 1, 52% type 2, 13% type 3, and 2% were presymptomatic. Only 10% of population was not treated at baseline, and 15% of the treated population was treated under clinical trial. In the adult population, 96% were SMA 2 or 3 (47% type 2 and 49% type 3 patients). In terms of treatment, 72% were treated (90% under commercialized treatments and 10% under clinical trial conditions). Updated data will be presented at the time of the congress.