Unmet Needs Among Adults Living with Spinal Muscular Atrophy in the United States


Topic:

Other

Poster Number: P288

Author(s):

Erin Welsh, MPH, Cure SMA, Lisa Belter, MPH, Cure SMA, Sarah Whitmire, MS, Cure SMA, Mary Curry, ND, Cure SMA, Mary Schroth, MD, Cure SMA

The advent of disease modifying therapies (DMTs) for spinal muscular atrophy (SMA) have led to improved survival and motor function, particularly among those who received treatment early in life and before disease progression. Despite these advances, unmet needs persist, particularly among adults living with SMA. This analysis aimed to assess unmet needs and gaps in care among adults living with SMA. Data was collected through the Cure SMA 2024 Community Update Survey, an annual survey designed to capture individual and caregiver-reported information pertaining to the SMA population. Analysis was restricted to individuals aged ≥ 18 years, currently living in the United States, and who self-completed the survey. Respondents (n=324) had an average age of 39.2 (s.d. 14.0) years, were predominantly female (68%), white (89%), non-Hispanic (84%), with Type 2 (49%) or Type 3 (44%) SMA, and primarily non-ambulatory (77%). 91% reported ever receiving a DMT, with the average age at first treatment at 34.4 (s.d. 13.7) years of age. 48% of respondents reported ever receiving an insurance denial for their DMT. Among those who have discontinued at least 1 treatment (n=114), 29% discontinued due to persistent symptoms, and 25% due to not tolerating the treatment. When asked about unmet needs that new therapies should address (n=302), the most common responses were gaining muscle strength (89%), reducing fatigue (71%), and achieving new motor function (64%). Independence was assessed among adults with Type 2 and non-ambulant Type 3 SMA (n=223) using the SMA Independence Scale – Upper Limb Module (SMAIS-ULM); the SMAIS-ULM is scored on a scale of 0-44, with higher scores indicating higher independence levels. The average score was 19.9 (s.d. 12.6). No significant differences were observed in scores among treatment status. Activities requiring assistance included moving around home without wheelchair (96%), wheelchair transfer (87%), putting on pants (87%), socks (83%), or a shirt (79%), and washing one’s hair (79%). These findings highlight unmet needs and gaps in care among adults with SMA, specifically related to insurance coverage for DMTs, persistent symptoms and non-progressing motor function, and low-average independence level.