P.42 CuidAME: Registry for longitudinal data collection of Spanish SMA patients

Abstract

Spinal muscular atrophy (SMA) is a genetic disorder characterized by loss of motor neurons in the spinal cord, leading to progressive muscle atrophy, weakness, and disability. Natural history of SMA has changed due to improvements in treatment and technological advances. However, the real-world evidence of the outcome of new treatments is unknown and registries can be a useful tool for this purpose. The aim of CuidAME Registry is to collect Longitudinal Data of Spanish SMA patients. CuidAME registry provides an online platform to collect longitudinal data on SMA patients to achieve a better understanding of the natural history and outcomes of patients as well as to support further research projects. CuidAME complements the existing SMA patient registry in Spain; the Fundame registry (performed by a national patient association for SMA - Fundame). CuidAME uses Smartcare platform to collect retrospective and prospective data on all SMA patients, regardless of their treatment regimen, collected during routine clinical visits and updated every eight months. We analysed the baseline data collected for 234 patients seen at 7 national hospitals. Data in the baseline visit showed that 19% were SMA type 1, 53% type 2, 25% type 3, 1% type 0, and 1% were presymtpomatic. 179 patients (78%) were treated, 93% received Nursinersen, 6% received Risdiplam, and 1% received Zolgensma. Mean age at baseline visit was 18.48 (0-76). 44 % of patients were female. For SMA type 1, the mean age was 8,5 y.o. (0-29), 91% were treated, 52% were able to sit, 61% used Non-invasive ventilation (NIV), 11% used Invasive ventilation, and 43% used a feeding tube. For SMA type 2, the mean age was 25,2 y.o. (2-76), 77% were treated, 78% were able to sit, 48% used NIV, 2% used a feeding tube, and 43% had a scoliosis surgery. The mean age for the SMA type 3 was 25.2 y.o (2-70). 74% were treated, 64% were able to walk. 10% had scoliosis surgery and 3% NIV. These are the results of the baseline visit. In the final poster results from the first year of data collection with longitudinal data analysis will be presented. CuidAME is providing a platform for harmonizing and systematising data collection across centres in Spain and it will promote national and international collaboration between centres and registries expanding the knowledge on SMA.