Estimation of impact of RPE65-mediated inherited retinal disease on quality of life and the potential benefits of gene therapy

• Published in: British journal of ophthalmology Vol. 103; no. 11; pp. 1610 - 1614
• Main Authors: Lloyd, Andrew, Piglowska, Natalia, Ciulla, Thomas, Pitluck, Sarah, Johnson, Scott, Buessing, Marric, O’Connell, Thomas
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group LTD 01.11.2019; BMJ Publishing Group
• Subjects: Adolescent; Blindness; Caregivers; Child; Child, Preschool; cis-trans-Isomerases - genetics; Clinical Science; Congenital diseases; Cost analysis; Diabetes; Diabetic retinopathy; Epidemiology; Experts; Female; Gene therapy; Genetic Therapy; Health Status; Humans; Interviews; Male; Mutation; Neuropsychological Tests; Patients; Psychometrics; Quality of life; Quality of Life - psychology; Retinal Diseases - genetics; Retinal Diseases - psychology; Retinal Diseases - therapy; Sickness Impact Profile; Surveys and Questionnaires; Vision Disorders - genetics; Vision Disorders - psychology; Vision Disorders - therapy; Visual impairment; United Kingdom > UK; United States > US; epidemiology; retina
• ISSN: 0007-1161; 1468-2079
• DOI: 10.1136/bjophthalmol-2018-313089

Background/aimsIn rare diseases, health-related quality of life (HRQL) data can be difficult to capture. Given the ultrarare nature of RPE65-mediated inherited retinal disease (IRD), it was not feasible to recruit a patient sample and collect HRQL data prospectively. The objectives of this study were to develop health state descriptions of RPE65-mediated IRD, and to estimate associated patient utilities.MethodsVignette descriptions of IRD states were developed and then assessed to elicit utilities. The vignettes ranged from moderate vision loss through to hand motion to no light perception (NLP). Six retina specialists with additional expertise in IRDs provided a proxy valuation of the vignettes using generic measures of health—the 5-level version of EQ-5D-5L and Health Utility Index 3 (HUI3). The data were then scored using standard methods for each instrument.ResultsWeights from both HRQL measures revealed a large decline in scores with vision loss. The EQ-5D-5L weights ranged from 0.709 for moderate vision loss to 0.152 for hand motion to NLP. The HUI3 weights ranged from 0.519 to − 0.039, respectively. A decline was seen on both measures, and the degree of decline from moderate vision loss to NLP was identical on both (−0.56).ConclusionThis is the first study to report HRQL weights (or utilities) for health states describing different levels of vision loss in patients with IRD, specifically those with RPE65-mediated disease. The parallel decline in scores from the EQ-5D and HUI3 corroborates the substantial impact of progressive vision loss on HRQL.