P76 The Canadian neuromuscular disease registry: a national spinal muscular atrophy registry for real world evidence

• Published in: Neuromuscular disorders : NMD Vol. 33; pp. S135 - S136
• Main Authors: Sobey, M., Hodgkinson, V., Westbury, G., Brais, B., Campbell, C., Castro-Codesal, M., Crone, M., Dojeiji, S., Genge, A., Gonorazky, H., Johnston, W., Kolski, H., Lochmüller, H., Mah, J., McAdam, L., O'Connell, C., O'Ferrall, E.K., Oskoui, M., Pfeffer, G., Phan, C.
• Format: Journal Article
• Language: English
• Published: Elsevier B.V 01.10.2023
• ISSN: 0960-8966; 1873-2364
• DOI: 10.1016/j.nmd.2023.07.278

Patient registries are an effective tool in tracking the natural history of rare diseases as well as post-marketing surveillance of novel therapies. The Canadian Neuromuscular Disease Registry (CNDR) is a pan-neuromuscular disease registry that prospectively collects Spinal Muscular Atrophy (SMA)-specific data in 28 clinics across Canada. The objective of this study is to describe real-world data from the CNDR-SMA patient population with a focus on outcomes of teens and adults on therapy. As of March 27, 2023, there are 130 children (12 years and under), 56 teens (13 to 19 years), and 158 adults (20 years and older) with SMA registered with the CNDR. We report cross-sectional data from our teen and adult population (N = 214), of which 177 are considered active registrants. Thirty-seven are deceased, withdrawn, or lost to follow-up. The median (min,max) age of our teens and adults is 32 (13,79) years. Patients are 52% female. The distribution of SMN2 copy number is as follows: 1% <2 copies, 10% with 2 copies, 67% with 3 copies, and 22% with 4 copies. Non-invasive ventilation is required in 34% of patients, and invasive ventilation is required in 3%. Twenty percent of patients use a feeding tube. With respect to current motor function, 73% of patients are non-ambulatory, and 61% can sit independently. Additionally, 72% of patients report being diagnosed with scoliosis. Of these, 59% report having undergone surgery for their scoliosis. Disease-modifying therapy has been reported in 88 patients: 70 on nusinersen and 18 on risdiplam. The median (min,max) ages at therapy initiation were 16 (6,73) and 25 (10,53) years, respectively. There are 91 patients who report not being on treatment. Motor and pulmonary outcomes after treatment initiation will be presented. In conclusion, the CNDR captures a comprehensive SMA dataset that prospectively evaluates real-world data, supporting post-marketing surveillance of novel therapies in Canada.