(260) The Development of a Conceptual Model to Describe the Health-Related Quality of Life Impacts of Living with Friedreich Ataxia

Publication Number: 591

Background: Friedreich ataxia (FA) is a rare neuromuscular disorder characterized by progressive loss of muscle control resulting in impaired movement and speech. Severe disability and premature mortality due to cardiac complications are common in the late stages of the disease. While the varied clinical manifestations of FA profoundly impact patient health-related quality of life (HRQoL), the relationships between FA symptoms and clinical manifestations, and other determinants of HRQoL impact in FA, have not yet been explored.

Objectives: In this study, a conceptual model was developed to illustrate the HRQoL implications and burden of the symptoms and clinical manifestations experienced by individuals living with FA.

Methods: The conceptual model was based on the published literature on the HRQoL impacts and broader lived experiences of those with FA; data describing HRQoL and its mediating factors in other disease areas was used to address gaps in the literature pertaining to FA. The model was continuously refined after review by clinical experts and individuals living with FA.

Results: This conceptual model describes the mediating factors, drivers of impact, and outcomes that contribute to patient HRQoL in FA. Key mediating factors identified include patient characteristics, clinical manifestations, symptom severity, social and environmental factors. Individuals are affected by changes to their physical abilities and activities of daily living, social and emotional impacts, fatigue, and pain. The model recognizes the relationship between mediating factors, clinical health status, and functional and psychosocial outcomes in determining overall HRQoL.

Conclusions: This work supports understanding of determinants of patient HRQoL in FA, including the relationships between various mediating factors and outcomes. Findings suggest that interventions are needed to address the clinical manifestations of FA, as well as the broader social and environmental factors that influence the burden of disease. The conceptual model also suggests the pathways through which FA interventions may improve HRQoL.