Comparison of Adult vs. Pediatric Patients with Spinal Muscular Atrophy: An Axon Registry Study
Heather Moss1, Craig Pfeifer2, Kathryn Sands2, Jeremy Peavey2, Iris Chin2, Peng Jin2, Michael Mbagwu2
1Stanford University, 2Verana Health
Objective:
To characterize patients with spinal muscular atrophy(SMA) in the AAN Axon Registry®.
Background:
SMA was first described in the 19th century, however the genetic mutation was not discovered until the 1990’s. The first treatment was not approved until 2016, with newborn screening not recommended until 2018. While these discoveries and protocols fundamentally changed the approach to care for children born with SMA, treatment and care for the adult population remain uncertain. The Axon Registry® captures real world data (RWD) on this unique adult population for whom clinical care may be different from children.
Design/Methods:
De-identifed Patients with SMA were manually selected in the Axon Registry if they had SMA in the opinion of the treating provider. SMA features (type, genetic copy number) were manually abstracted from EHR data contained in the Axon Registry. Demographic, care location and treatments were extracted from structured EHR data contained in the Axon Registry. De-identified Adult SMA patients(Age ≥ 18 at time of registry entry) were compared to de-identified pediatric SMA patients.
Results:
296 SMA patients were identified (219(74%) adults, 57% female, 51% midwest region). While adults and children had similar sex distribution, adults had less severe SMA type. Adult patients were less likely to have genotype documented (p<0.0005), but similarly likely to have SMA type documented (p=0.3). Adult patients were more likely to receive care outside of academic practices (p=0.009), but similarly likely to receive disease targeting treatment (p=0.4). Compared to published SMA registries the Axon Registry cohort had a higher proportion of adult patients.
Conclusions:
The Axon Registry contains RWD about diagnosis and treatment for adult patients with SMA who are not receiving care in academic practices. Though recent diagnostic and treatment advances focus on care of pediatric SMA patients, there is an opportunity to better understand the factors driving diagnosis and treatment in adults.