The quality-of-life impacts and economic burden of X-linked retinitis pigmentosa caused by variants in RPGR

OBJECTIVES: To estimate the health and societal costs and health-related quality of life (HRQoL) impacts of X-linked retinitis pigmentosa (XLRP) caused by RPGR. METHODS: Primary data were obtained from a clinical cohort of 9 patients with X-linked retinitis pigmentosa (XLRP) and 4 caregivers. Health-related quality of life (HRQoL) impacts for patients and carers are assessed using utility values derived from the Assessment of Quality of Life-8 Dimension (AQoL-8D) instrument. Lifetime costs associated with XLRP are estimated through microsimulation modelling. The model accounts for both societal and healthcare costs, capturing the economic burden on patients, caregivers and their spouses. RESULTS: Average AQoL-8D utility values for patients with XLRP are 0.57, slightly lower than other inherited retinal diseases and significantly (p < 0.05) below age and gender adjusted population norms of 0.81. HUI2 and HUI3 values were 0.81 and 0.75, respectively. Lifetime costs for XLRP were AUD 7.0 m. Most costs (79%) were societal costs. Using a range of prevalence estimates, national annual costs are estimated to be between AUD 38.4 m and AUD 49.7 m. CONCLUSION: XLRP imposes a substantial burden on quality of life and generates high societal costs relative to direct healthcare costs, consistent with patterns observed in other IRDs. The results highlight the importance of incorporating societal costs into cost-effectiveness analyses when assessing new interventions for individuals with XLRP, including genetic testing and emerging gene therapies.