Objective: The objective was to demonstrate the progression of HRQoL over time and identify factors affecting SCA patients’ HRQoL.

Background: Spinocerebellar ataxias (SCA) comprise a varied group of autosomal dominant inherited ataxia disorders with a global prevalence of appr. 3 in 100,000. All SCAs share cerebellum degeneration and progressive neurodegenerative symptoms, causing severe disability and premature death [1]. Little is known about the progression of health-related quality of life (HRQoL) and its predicting factors in SCA. Such knowledge would be crucial for a more comprehensive understanding of modifiable factors to promote everyday life with SCA.

Method: Longitudinal data (three years of follow-up) of 310 SCA3 patients of the European SCA3/Machado-Joseph Disease Initiative cohort (ESMI) (2016-2022) and 525 SCA 1,2,3 and 6 of the EUROSCA natural history study cohort (2006-2015) were used. HRQoL was measured by the generic, preference-based EQ-5D-3L, capturing the HRQoL dimensions mobility, self-care, usual activities, pain/discomfort, and anxiety/depression. Spearman rank correlations were used to assess the correlation between HRQoL and clinical measures. Multivariable linear panel regression models were performed to evaluate the impact of patients’ socio-demographics (sex, age), age of SCA onset, SCA type and severity (SARA), non-Ataxia signs (INAS), body mass index (BMI), and mental health (PHQ-9) on HRQoL.

Results: HRQoL significantly decreased over one (-0.014, p=0.095), two (-0.028, p=0.003), and three years (-0.032, p=0.002) of follow-up. Ataxia severity (SARA: r_s=0.569, p<0.001) and depression (PHQ-9: r_s=0.507, p<0.001) strongly correlate with HRQoL. Multivariable analyses revealed that HRQoL more intensively decreased in male patients (ß=-0.024, p=0.038) and patients with an earlier age of onset (ß=0.0022, p=0.058). Also, a more intensive progression of ataxia severity (ß =-0.0096, p =<0.001), mental health problems (ß= -0.0120, p<0.001), and obesity (ß =-0.0031, p=0.029) caused a more severe decline of patients’ HRQoL over time.

Conclusion: In the absence of curative treatments, a stronger focus on mental health and obesity could help clinical evaluation and accompanying treatment of SCA diseases to improve patient-reported outcomes in SCA, especially in male patients with early disease onset and more severe mental health problems.

References: Jacobi H, Du Montcel ST, Bauer P, et al. Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study. The Lancet Neurology. 2015;14(11):1101-1108. Available at: https://www.sciencedirect.com/science/article/pii/s1474442215002021.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/factors-influencing-health-related-quality-of-life-of-patients-with-spinocerebellar-ataxia/