JAV-RARAS: MAPPING THE MULTIDIMENSIONAL BURDEN OF MUCOPOLYSACCHARIDOSIS TYPE IVA (MPS IVA), TYPE VI (MPS VI), AND SPINAL MUSCULAR ATROPHY (SMA) ON PATIENT QUALITY OF LIFE IN BRAZIL
Author(s)
Marcelo E. Nita, MSc, PhD, MD1, Luana Lopes, BS1, Thiago Belina, BS1, Camila Azevedo, BS1, Vinycius Berg, BS1, Temis Felix, MD, PhD2;
1MAPESolutions, SÃO PAULO, Brazil, 2HCPA UFRS, Porto Alegre, Brazil
1MAPESolutions, SÃO PAULO, Brazil, 2HCPA UFRS, Porto Alegre, Brazil
OBJECTIVES: To characterize health-related quality of life using the EQ-5D-3L in Brazilian patients with - Mucopolysaccharidosis type IVA (MPS IVA), type VI (MPS VI), and Spinal Muscular Atrophy (SMA).
METHODS: Analysis from the JAV-Raras prospective observational study. Patients completed the EQ-5D-3L, covering five dimensions (Mobility, Self-Care, Usual Activities, Pain/Discomfort, Anxiety/Depression) and a Visual Analogue Scale (VAS). Analysis included utility values (Brazilian tariff) and problem frequency per dimension.
RESULTS: Mean utility values and VAS scores indicated substantial burden, with disease-specific patterns. For MPS VI, {26.15%} of patients reported severe problems in Mobility, and {23.53%} in Usual Activities. In MPS IVA, Pain/Discomfort showed the highest rate of moderate problems ({37.5%}), while Self-Care and Mobility had significant severe problem rates ({31.25%} and {25%}, respectively). For SMA, Mobility and Self-Care were the most affected dimensions, with {43.24%} and {40.54%} of patients reporting severe problems. Conversely, Anxiety/Depression had the highest proportion of "no problems" across groups (e.g., {50%} for SMA). VAS scores showed high inter-patient variability, ranging from approximately 40 to 100 in all conditions.
CONCLUSIONS: The EQ-5D demonstrated significant and multidimensional impairment in HRQoL for Brazilian patients with MPS VI, MPS IVA, and SMA. The pronounced impact on functional dimensions emphasizes the physical challenges, while the preserved mental health in some areas points to resilience. These quantitative data are essential for economic evaluations and for shaping value-based healthcare policies for these high-cost rare diseases.
METHODS: Analysis from the JAV-Raras prospective observational study. Patients completed the EQ-5D-3L, covering five dimensions (Mobility, Self-Care, Usual Activities, Pain/Discomfort, Anxiety/Depression) and a Visual Analogue Scale (VAS). Analysis included utility values (Brazilian tariff) and problem frequency per dimension.
RESULTS: Mean utility values and VAS scores indicated substantial burden, with disease-specific patterns. For MPS VI, {26.15%} of patients reported severe problems in Mobility, and {23.53%} in Usual Activities. In MPS IVA, Pain/Discomfort showed the highest rate of moderate problems ({37.5%}), while Self-Care and Mobility had significant severe problem rates ({31.25%} and {25%}, respectively). For SMA, Mobility and Self-Care were the most affected dimensions, with {43.24%} and {40.54%} of patients reporting severe problems. Conversely, Anxiety/Depression had the highest proportion of "no problems" across groups (e.g., {50%} for SMA). VAS scores showed high inter-patient variability, ranging from approximately 40 to 100 in all conditions.
CONCLUSIONS: The EQ-5D demonstrated significant and multidimensional impairment in HRQoL for Brazilian patients with MPS VI, MPS IVA, and SMA. The pronounced impact on functional dimensions emphasizes the physical challenges, while the preserved mental health in some areas points to resilience. These quantitative data are essential for economic evaluations and for shaping value-based healthcare policies for these high-cost rare diseases.
Conference/Value in Health Info
2026-05, ISPOR 2026, Philadelphia, PA, USA
Value in Health, Volume 29, Issue S6
Code
PCR145
Topic
Patient-Centered Research
Topic Subcategory
Patient-reported Outcomes & Quality of Life Outcomes
Disease
SDC: Rare & Orphan Diseases