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Disease Burden in Children With Spinal Muscular Atrophy: Results From a Large Cross-Sectional Study
Spencer Rosero1, Jennifer Weinstein1, Jamison Seabury1
1Center for Health and Technology, 6927The University of Rochester, Rochester, NY, USA.
Insights
This study highlights key symptoms in children with spinal muscular atrophy (SMA). Weakness in the hip, thigh, or knee significantly impacts quality of life, guiding future SMA therapeutic research.
Area of Science:
- Pediatric Neuromuscular Disorders
- Clinical Research
- Patient-Reported Outcomes
Background:
- Spinal muscular atrophy (SMA) is a rare genetic disorder affecting motor neurons.
- Understanding symptom burden in pediatric SMA is crucial for therapeutic advancement.
- Current research lacks comprehensive data on symptom impact and prevalence in children with SMA.
Purpose of the Study:
- To identify and characterize the prevalence and impact of symptoms in children with spinal muscular atrophy (SMA).
- To generate a comprehensive dataset on the disease burden experienced by pediatric SMA patients.
- To inform and focus future therapeutic development for SMA.
Main Methods:
- Qualitative interviews with 16 caregivers of children with SMA.
- Development of a survey based on interviews, assessing 260 symptoms across 17 themes.
- Survey completion by 77 caregivers of children with SMA (aged 4 months to 12 years).
Main Results:
- Symptom prevalence in pediatric SMA correlates with SMA type, SMN2 gene copy number, and functional status.
- Hip, thigh, or knee weakness reported as the most impactful symptom for children with SMA.
- Identified a discrepancy between the most prevalent and most impactful symptoms in pediatric SMA.
Conclusions:
- This study presents a large dataset on the disease burden in pediatric spinal muscular atrophy.
- The most impactful symptoms for children with SMA are not necessarily the most prevalent.
- Findings provide critical insights to guide targeted therapeutic development for SMA.
Abstract:
Background:To facilitate advances in spinal muscular atrophy therapeutic research, it is important to determine the impact and prevalence of symptoms experienced by children with spinal muscular atrophy. Methods: We conducted qualitative interviews with caregivers of children with spinal muscular atrophy. From these interviews, we generated a survey inquiring about 260 symptoms of importance grouped into 17 symptomatic themes. Results: Sixteen caregivers of children with spinal muscular atrophy aged from 4 months to 12 years participated in initial interviews, and 77 caregivers completed the survey. Higher symptom prevalence was associated with spinal muscular atrophy type, SMN2 copy number, and functional status. Hip, thigh, or knee weakness had the greatest reported impact on the lives of children with spinal muscular atrophy. Conclusions: This research provides one of the largest data sets regarding disease burden in children with spinal muscular atrophy. The most prevalent symptoms are not identical to those with the greatest impact. This unique insight into the most impactful symptoms will help focus therapeutic development in spinal muscular atrophy.
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