{
  "abstract": "Background Mitochondrial diseases are a group of rare, chronic disorders with a significant disease burden; however, there is limited knowledge about their effects on the health-related quality of life (HRQoL) of patients and their carers. This study estimates HRQoL among adult patients with mitochondrial diseases and their carers, using the Assessment of Quality-of-Life 8D (AQoL-8D), a validated instrument for measuring health utilities.Methods Ninety-nine adult patients and 24 carers were recruited to the Economic and Psychosocial Impacts of Caring for Families Affected by Mitochondrial Disease (EPIC-MITO) Study, based in New South Wales, Australia.Results Adult patients exhibited significantly lower utility values (0.52) compared with age-adjusted and gender-adjusted population norms (0.80; p<0.001). Regression analysis shows that mental health disorders, sleep disorders, financial stress and female gender were associated with reduced HRQoL. Carers also demonstrated AQoL-8D utility values (0.70) significantly below age-adjusted and gender-adjusted population norms (0.81; p=0.01) reflecting the broader burden of mitochondrial diseases on families.Conclusion With increasing use of genetic testing and genomic sequencing, as well as hope for gene therapies, health utility values will be necessary for economic evaluations of new interventions for mitochondrial disease. This paper shows the substantial impact on HRQoL of mitochondrial disease measured through utilities. The utility values from this paper can inform future economic evaluations for interventions for patients with mitochondrial disease. Further, the paper demonstrated that mitochondrial disease not only reduces the HRQoL of patients but also impacts the HRQoL of carers.",
  "authors": [
    {
      "affiliations": [
        "GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie University, North Ryde, New South Wales, Australia"
      ],
      "name": "Deborah Schofield"
    },
    {
      "affiliations": [
        "GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie University, North Ryde, New South Wales, Australia"
      ],
      "name": "Joshua Kraindler"
    },
    {
      "affiliations": [
        "GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie University, North Ryde, New South Wales, Australia"
      ],
      "name": "Katherine Lim"
    },
    {
      "affiliations": [
        "GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie University, North Ryde, New South Wales, Australia"
      ],
      "name": "Owen Tan"
    },
    {
      "affiliations": [
        "Department of Neurogenetics, University of Sydney, St Leonards, New South Wales, Australia"
      ],
      "name": "Sameen Haque"
    },
    {
      "affiliations": [
        "Department of Neurogenetics, University of Sydney, St Leonards, New South Wales, Australia"
      ],
      "name": "Karen Crawley"
    },
    {
      "affiliations": [
        "GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie University, North Ryde, New South Wales, Australia"
      ],
      "name": "Sarah West"
    },
    {
      "affiliations": [
        "Department of Neurogenetics, University of Sydney, St Leonards, New South Wales, Australia"
      ],
      "name": "Adam Percival"
    },
    {
      "affiliations": [
        "GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie University, North Ryde, New South Wales, Australia"
      ],
      "name": "Jayamala Parmar"
    },
    {
      "affiliations": [
        "GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie University, North Ryde, New South Wales, Australia"
      ],
      "name": "Rupendra Shrestha"
    },
    {
      "affiliations": [
        "Department of Neurogenetics, University of Sydney, St Leonards, New South Wales, Australia",
        "Department of Neurology, Southeast Sydney Local Health District, Randwick, New South Wales, Australia"
      ],
      "name": "Carolyn Sue"
    }
  ],
  "title": "Health-related quality of life in patients with mitochondrial disease and their carers",
  "uid": "bb6c7ed2-5dc6-5ad6-bcaa-022e4e03df48"
}