Estimating quality of life in adults with Mitochondrial disease and their carers

Introduction: Mitochondrial disease is a serious and debilitating neurometabolic disorder causing significant disease burden and mortality, with great heterogeneity in presentation of symptoms. Currently, there are no curative therapies, with treatments focused on managing and reducing the impacts of symptoms. There are limited studies on the Quality of Life (QoL) impacts of the disease and to our knowledge, no study using health utilities to quantify the impact. With advances in genetic testing and the hope of breakthroughs in treatments, QoL data using health utilities will be required for use in cost-effectiveness analysis for publicly funded interventions.

Materials and methods: Patients were recruited from Neurogenetic clinics in Sydney, Australia. 96 participants and 24 carers completed the tailored questionnaire, which collected information on QoL and health utilities through the Assessment of Quality of Life (AQoL)-8D, a validated measure of QoL.

Results: AQoL-8D utility values for patients and carers were significantly lower than the general population. We will present scores for each of the AQoL-8D domains and bivariate and multivariate regressions analysing the drivers of patient QoL.

Conclusion: Mitochondrial disease has substantial impacts on QoL. This paper will present the first analysis of QoL in Mitochondrial disease patients using health utilities. This will be crucial to inform cost-effectiveness of new interventions, including genomic testing, for patients with Mitochondrial disease.