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. 2025 Oct;12(10):2020-2035.
doi: 10.1002/acn3.70132. Epub 2025 Jul 6.

Remaining Burden of Spinal Muscular Atrophy Among Treated Patients: A Survey of Patients and Caregivers

Julie A Parsons  1 , Natalie Land  2 , Melissa Culhane Maravic  2 , Claire Cagle  2 , Amal Jamaleddine  2 , Hemal Shah  3 , Thomas Brown  4 , Christabella Cherubino  4 , Mouhamed Gueye  4
Affiliations

Remaining Burden of Spinal Muscular Atrophy Among Treated Patients: A Survey of Patients and Caregivers

Julie A Parsons et al. Ann Clin Transl Neurol. 2025 Oct.

Abstract

Objective: Spinal muscular atrophy (SMA) significantly impacts motor function. This study aimed to assess the persistent burden and unmet needs among currently treated patients with SMA and their caregivers.

Methods: Two complementary web-based surveys were distributed in August 2024 among patients with SMA and their caregivers. Non-ambulant patients with SMA currently receiving risdiplam or nusinersen, and/or their primary, informal caregivers were eligible to participate. Survey modules captured clinical, humanistic, productivity, and caregiver-related burden of disease. The PROMIS Fatigue and EQ-5D-5L were used to assess fatigue and quality of life.

Results: 40 pediatric (mean age 8.3 years; represented by caregiver proxies) and 68 adult patients (mean age 37.5 years) were included, of which the majority were on SMN-targeted treatment for ≥ 2 years (82.5% and 94.1%, respectively), and nearly half were on treatment for ≥ 4 years. Despite continued treatment, muscle weakness was reported in 95% of pediatric and 100% of adult patients, with 63% of pediatric and 68% of adult patients reporting "severe" or "very severe" muscle weakness that substantially impacted motor function and performance of activities of daily living. Increased fatigue and muscle weakness were associated with worse overall health. Findings also demonstrated impacts of SMA on patient quality of life and well-being. Most participants reported mobility limitations and muscle weakness as being least improved by current treatment.

Interpretation: Despite the use of current treatments, there remains a significant burden of SMA on patients and their caregivers. Muscle weakness and mobility limitations remain key areas of unmet need.

Keywords: disease burden; fatigue; muscle weakness; spinal muscular atrophy; unmet need.

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Conflict of interest statement

N.L., M.C.M., C. Cagle, and A.J. are employees of Precision AQ, a research consultancy that provides health economics and outcomes research services to life sciences companies, which received funding from the sponsor to conduct this study. M.C.M. owns equity interest in Precision AQ's parent company, Precision Medicine Group. T.B., C. Cherubino, and M.G. are employees of Scholar Rock Inc. J.A.P. has received funds for clinical trials fromBiogen, Novartis, Scholar Rock, Biohaven, Genentech, and PTC Therapeutics. J.A.P. has been an advisor for Biogen, Novartis, Scholar Rock Inc., Genentech, Ultragenex, and Dyne. H.S. has been an advisor for Scholar Rock Inc.

Figures

FIGURE 1
FIGURE 1
Severity of muscle weakness experienced by pediatric (n = 40) and adult patients (n = 68). Pediatric patient data was reported by caregiver proxies. Adult patient data was self‐reported.
FIGURE 2
FIGURE 2
Activities patients value most in terms of being able to do independently: (A) Pediatric patients (n = 40), (B) Adult patients (n = 68). Pediatric patient data was reported by caregiver proxies. Adult patient data was self‐reported. Participants were asked to select the top 5 activities the patient valued/caregivers thought the patient with SMA valued the most.
FIGURE 3
FIGURE 3
Most burdensome impacts of SMA: (A) Pediatric patients (n = 40), (B) Adult patients (n = 68). Pediatric patient data was reported by caregiver proxies. Adult patient data was self‐reported. Participants were asked to select the three impacts the patient considered/caregivers thought the patient with SMA considered to be the most burdensome.
FIGURE 4
FIGURE 4
SMA symptoms least improved with current SMN‐targeted treatment: (A) Pediatric patients (n = 40), (B) Adult patients (n = 68). Pediatric patient data was reported by caregiver proxies. Adult patient data was self‐reported. Participants were asked to select the three impacts the patient considered/caregivers thought the patient with SMA considered to be least improved or helped by the patient's current treatment.
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