Cure SMA Attends Spring 2024 Professional Organization Conferences to Promote Findings from Real World Evidence Collaboration Initiatives

Cure SMA completed an analysis to describe the relationship between the timing of initiation of first SMA treatment on motor function achievement at 2 years of age (24-35 months old) in individuals that participated in the 2021-2023 (CUS) or the Cure SMA Clinical Data Registry (CDR). The CUS contains patient/caregiver reported data from a yearly survey hosted by Cure SMA to better understand the demographics and treatment experiences of those living with SMA. The CDR contains clinician-reported data sourced from electronic medical records as well as SMA-specific information entered into an electronic case report form (digital questionnaire) by clinicians. The final sample included 80 individuals, and the majority had 2 or 3 copies of SMN2. The largest proportion of individuals with 2 copies of SMN2 had received their first SMA treatment before 29 days of age, and the majority of individuals with 3 copies of SMN2 had received their first SMA treatment between 30-90 days of age. [Figure 1]

In this sample, all individuals who received treatment by 14 days old (n=5), and 71% of those who received treatment between 15-29 days old (n=21) were reported to walk unassisted at 2 years of age. Similar trends were found in individuals with 3 copies of SMN2. [Figure 2]

While this analysis was descriptive and has limitations such as sample size and timing of outcomes, it illustrates the importance of early SMA treatment initiation and suggests that the timing of treatment may play a critical role in motor function milestone achievement. Results may not be generalizable to all individuals with SMA as the overall clinical course for an individual patient is complex and multifactorial.

The goal of this analysis was to describe high-level SMA treatment patterns in individuals who started their first disease modifying SMA treatment as teens or adults in the CDR. For those individuals utilizing more than one SMA treatment, we explored if the clinician intended for the second treatment to be used sequentially (after the first treatment was stopped) or concurrently (at the same time as the first treatment). The CDR contains data from >1,050 consented individuals with SMA, and 50% are teens (12-17 years) or adults (18+ years).

The analysis included U.S. residents with 5q SMA who utilized any FDA-approved SMA treatment(s) outside of a clinical trial and initiated their first treatment at 12+ years old. We required at least one year of follow-up after a 2^nd SMA treatment had become commercially available for teens or adults.

In the CDR, 65% of individuals with SMA, that initiated treatment as teens or adults, utilized one treatment. The remaining individuals utilized two SMA treatments, and use of two treatments was higher for individuals with SMA Type 1 (50%) and SMA Type 2 (40%), compared to those living with SMA Type 3 (26%). For those individuals utilizing two treatments (n=68 with treatment intent information), there were no cases where the prescriber intended for the two treatments to be used concurrently. Additionally, we found a few nuanced treatment cases where individuals stopped and restarted the same treatment. These findings highlight potential current unmet needs that may negatively affect treatment persistence. Future analyses linking treatment patterns to clinical outcomes are warranted.

The CDR contains EMR-sourced data for over 1000 individuals. Given the large amount of data within registries like the CDR, it’s important to ensure that the data is consistent and high quality. As such, Cure SMA created a customized process to assess data quality in the CDR. As a starting point, Cure SMA explored the published literature to identify data quality checks that other organizations have similarly applied to improve registry data quality. Those checks were supplemented with additional customized checks specific to the CDR.

The poster described > 25 data quality checks that have been implemented, and it showcased high level results from the CDR as well as how we can use it to flag inconsistencies or visualize progress. Key learnings may be used to support improvements of data quality within other Cure SMA databases and similar EMR based registries.