598P The Canadian Neuromuscular Disease Registry: using real-world evidence to further spinal muscular atrophy research in Canada.

The Canadian Neuromuscular Disease Registry (CNDR) is a pan-neuromuscular disease registry that prospectively collects spinal muscular atrophy (SMA)-specific data in 32 clinics across Canada. The CNDR captures a comprehensive SMA dataset to evaluate long-term real-world experience with available and emerging therapies. The objective of this study is to describe real-world data from the CNDR-SMA patient population. The CNDR has 417 SMA patients registered, 207 adult patients (170 with clinical data) and 198 pediatric patients (181 with clinical data). This represents a large percentage of expected Canadians with SMA. Of those with complete data, Median age is 37 (18-80) for adults, and 9 (1-17) for pediatric patients. 243 (66%) patients have SNM2 copy number reported, 69 (28%) have 2 copies, 134 (55%) have 3 copies, 38 (16%) have 4 copies, and 119 are unknown/not reported. 93 (26%) patients are ambulatory. There are three disease modifying therapies (DMTs) approved for the treatment of SMA: risdiplam, nusinersen, and onasemnogene abeparvovec that all showed efficacy in clinical trials. Real-world effectiveness must be assessed across a broader range of patients presenting with variable comorbidities and disease severity. The CNDR collects DMT-specific real-world data to contextualize the effects of DMTs and to further access to treatment options in Canada. DMT's are differentially accessible across Canada, based on reimbursement recommendations of provincial payers. DMT use has been reported in 222 CNDR SMA patients: 184 on nusinersen, 41 on risdiplam, 36 on zolgensma (152 pediatric, and 71 adult), and 75 with no DMT use. In conclusion, the CNDR captures a comprehensive SMA dataset that prospectively evaluates real-world data, supporting post-marketing surveillance of novel therapies in Canada. Analysis is ongoing and available longitudinal follow-up data will be presented with descriptive statistics for both naive and DMT patients. [ABSTRACT FROM AUTHOR]