Endocrine Abstracts

JOINT115

Introduction: X-linked hypophosphataemia (XLH) is a genetic orphan disease that causes growth impairments, rickets in children, and lifelong osteomalacia throughout the life span. A 2019 international survey showed <2% of adults received all aspects of best care as laid out in the recent Haffner et al recommendations, however data on children’s real-world XLH care and lived experiences is lacking. This research aims to evaluate parent/caregiver satisfaction with XLH care in children and identify barriers to optimal care.

Methods: Double-blind, virtual, 1-hour interviews were conducted in local language in January 2024. Interviewees included 8 parents/caregivers from Sweden (4), Finland (2) Denmark (1) and Norway (1); and 1 healthcare provider (HCP) from Finland. Interviews covered four themes: experiences of XLH care, treatments, understanding the burden of XLH, and improving XLH care. Key words were used to identify concepts discussed and quantify the qualitative data.

Results: Recruitment proved challenging due to XLH’s rarity and the limited number of specialist HCPs. While engagement through patient advocacy groups (PAGs) was successful in Sweden, uptake was lower in other countries. Among the parents/caregivers interviewed (n = 8), all reported their child received care from endocrinologists and dentists, but none had support from psychologists or social workers. While satisfaction with specialist care was high, 25% noted communication gaps with their general practitioner (GP). Burdens of XLH care included frequent administration of phosphate and alfacalcidol and organizing life around care; 63% found it challenging to plan logistics for care, with some facing travel times of up to 5 hours for treatments. Interviewees suggested several improvements that could reduce the burden of XLH on families, including the need for a coordinating XLH care provider (38%), increased knowledge and awareness of the condition among GPs and hospital care providers (38%), and better access to optimal treatments (75%).

Conclusion: These findings identify key areas for improving the care experience of children with XLH, particularly by enhancing access to coordinated care and mitigation of logistical and communication challenges. Increasing physician knowledge and alleviating frustrations related to treatments options could further help reduce the burden on families. Future research should prioritize close collaboration with patient groups to facilitate more effective recruitment and engagement.