FUNCTIONAL AND SOCIAL BURDEN OF SPINAL MUSCULAR ATROPHY TYPE 3 IN BRAZIL: A MIXED-METHODS PATIENT-CENTERED STUDY
Author(s)
Cristina Guimarães Rodrigues, PhD1, Vanessa Nicolao, BSc2, Flavia S. Tobaruella, BSc3, Juliana Coleridge, BSc3, Nayara Gerez, MSc3, Gustavo M. Tiguman, PharmD, PhD3;
1Grupo de Economia da Saúde e Criminalidade (GEESC), Cedeplar, Federal University of Minas Gerais, Minas Gerais, Belo Horizonte, Brazil, 2Proclame - Instituto de Apoio e Cuidados às Pessoas com Atrofia Muscular Espinhal, São Paulo, Brazil, 3Produtos Roche Químicos e Farmacêuticos S.A., São Paulo, Brazil
1Grupo de Economia da Saúde e Criminalidade (GEESC), Cedeplar, Federal University of Minas Gerais, Minas Gerais, Belo Horizonte, Brazil, 2Proclame - Instituto de Apoio e Cuidados às Pessoas com Atrofia Muscular Espinhal, São Paulo, Brazil, 3Produtos Roche Químicos e Farmacêuticos S.A., São Paulo, Brazil
OBJECTIVES: Spinal Muscular Atrophy (SMA) is a progressive neuromuscular disease characterized by cumulative loss of strength and escalating limitations and is classified by type (0-4), according to the motor milestones achieved. In Brazil, reimbursement of disease modifying treatments is unavailable for patients with SMA type 3 (SMA3), which highlights access inequalities and underestimates the disease burden. This study assessed the functional and social burdens of SMA3 from the perspective of adult patients and caregivers of pediatric patients.
METHODS: A patient-centered, mixed-methods observational study utilized the Nominal Group Technique (NGT), adapted for virtual application, involving 13 participants (8 adults, 5 caregivers). Disease-related challenges were defined through consensus and analyzed using the WHO International Classification of Functioning, Disability and Health (ICF) framework and descriptive statistics.
RESULTS: Functional analysis revealed that ‘Mobility’ (39.3% pediatric; 36.7% adult) and ‘Neuromusculoskeletal Functions’ (25% pediatric; 24.1% adult) were the most frequently reported difficulties. Furthermore, ‘Self-care’ represented 21.5% of adult-reported items, significantly exceeding the 14.3% reported by caregivers. Notably, three-quarters (75%) of adult participants required a wheelchair. Social impacts on pediatric patients were heavily concentrated in the psychosocial dimension, with ‘Mental Functions’ (Emotional) comprising 50% of concerns, followed by ‘Interactions/Relationships’ (25%). In contrast, adult social impacts were mostly related to ‘Community, Social and Civic Life’ (14.1%), followed by environmental factors related to ‘Products and Technology’ (12.5%) such as accessibility barriers in public spaces, transportation, and healthcare services, ‘Interactions and Relationships’ (10.9%), and ‘Work and Employment’ (9.4%).
CONCLUSIONS: SMA3 patients face a substantial functional and social burden in Brazil. While motor impairment remains the hallmark of the disease, it also translates into severe emotional barriers for children and adds profound structural and socioeconomic hurdles for adults. These results may guide health policy decision makers in resource planning toward comprehensive support that addresses the unmet needs faced by Brazilian patients with SMA3.
METHODS: A patient-centered, mixed-methods observational study utilized the Nominal Group Technique (NGT), adapted for virtual application, involving 13 participants (8 adults, 5 caregivers). Disease-related challenges were defined through consensus and analyzed using the WHO International Classification of Functioning, Disability and Health (ICF) framework and descriptive statistics.
RESULTS: Functional analysis revealed that ‘Mobility’ (39.3% pediatric; 36.7% adult) and ‘Neuromusculoskeletal Functions’ (25% pediatric; 24.1% adult) were the most frequently reported difficulties. Furthermore, ‘Self-care’ represented 21.5% of adult-reported items, significantly exceeding the 14.3% reported by caregivers. Notably, three-quarters (75%) of adult participants required a wheelchair. Social impacts on pediatric patients were heavily concentrated in the psychosocial dimension, with ‘Mental Functions’ (Emotional) comprising 50% of concerns, followed by ‘Interactions/Relationships’ (25%). In contrast, adult social impacts were mostly related to ‘Community, Social and Civic Life’ (14.1%), followed by environmental factors related to ‘Products and Technology’ (12.5%) such as accessibility barriers in public spaces, transportation, and healthcare services, ‘Interactions and Relationships’ (10.9%), and ‘Work and Employment’ (9.4%).
CONCLUSIONS: SMA3 patients face a substantial functional and social burden in Brazil. While motor impairment remains the hallmark of the disease, it also translates into severe emotional barriers for children and adds profound structural and socioeconomic hurdles for adults. These results may guide health policy decision makers in resource planning toward comprehensive support that addresses the unmet needs faced by Brazilian patients with SMA3.
Conference/Value in Health Info
2026-05, ISPOR 2026, Philadelphia, PA, USA
Value in Health, Volume 29, Issue S6
Code
PCR64
Topic
Patient-Centered Research
Topic Subcategory
Patient Behavior and Incentives, Patient Engagement, Patient-reported Outcomes & Quality of Life Outcomes
Disease
SDC: Neurological Disorders, SDC: Rare & Orphan Diseases