{
  "abstract": "Introduction Facioscapulohumeral dystrophy (FSHD) is a progressive, autosomal dominant muscle condition. FSHD leads to worsening mobility, social participation, and health related quality of life (HRQoL).HRQoL is an essential patient reported outcome for clinical trials and when informing regulatory bodies. We assessed the utility of EQ-5D-5L in calculating HRQoL in FSHD.Methods A patient survey relating to care, mobility, EQ-5D-5L, and self-reported disease severity (SRSS) was designed and distributed via the FSHD registry and FSHD-UK.A separate clinical-cohort were assessed using FSHD Clinical Score (FCS), strength assessments, functional assessments, and EQ-5D-5L.Results The patient survey received 168 responses, 31 participants were recruited to the clinical-cohort. Mean EQ-5D-5L health utility value (HUV) for each cohort was 0.42 and 0.54 respectively.HUV correlated strongly with disease severity (SRSS rho = -0.70 - survey-cohort, FCS rho = -0.70 - clinical-cohort). Ambulatory status was a strong driver of HUV (survey-cohort: AUC 0.93, clinical-cohort 0.98), as was need for paid carers (AUC 0.89 – survey-cohort).Conclusion We demonstrate the utility of EQ-5D-5L to appraise HRQoL in the UK FSHD patients. EQ-5D-5L health utility value strongly correlated with measures of disease severity, and was significantly affected by ambulatory status and carer input.j.street1@nhs.net",
  "authors": [
    {
      "affiliations": [
        "Academic Unit of Neuromuscular Disease, Sheffield Teaching Hospitals",
        "SITraN, University of Sheffield"
      ],
      "name": "Street Jon"
    },
    {
      "affiliations": [
        "ScHARR, University of Sheffield"
      ],
      "name": "Dixon Simon"
    },
    {
      "affiliations": [
        "Academic Unit of Neuromuscular Disease, Sheffield Teaching Hospitals",
        "SITraN, University of Sheffield"
      ],
      "name": "McDermott Christopher J"
    },
    {
      "affiliations": [
        "John Walton Muscular Dystrophy Research Centre, Newcastle University"
      ],
      "name": "Muni Lofra Robert"
    },
    {
      "affiliations": [
        "Academic Unit of Neuromuscular Disease, Sheffield Teaching Hospitals",
        "SITraN, University of Sheffield"
      ],
      "name": "Hewamadduma Channa"
    }
  ],
  "title": "149 Health-related quality of life : results from a large FSHD patient survey, and clinical assessments",
  "uid": "44fc60d3-06a5-5e27-97b2-c8fa3f373dc4"
}