Why carry out this study?

To date, there are limited published data on the impact of this rare, lifelong debilitating disease from a patient perspective and no prior study presenting the lifelong burden of X-linked hypophosphataemia (XLH).

Likewise, we are unaware of any studies that have used qualitative techniques to evaluate patient submissions received during a health technology assessment.

We sought to determine the symptom and treatment burden of XLH on children, adolescents and adults from the patient and carer perspective using a thematic analysis of freely available statements.

What was learned from the study?

We show that there is a clear evolution of the burden of XLH from being treatment-centric in childhood to multi-factorial in adolescents with a rise in psychological burden and high impact on need for other interventions, function and mobility in adulthood.

This study highlights the changing nature of the symptom and treatment burden of XLH from a patient and caregiver perspective.

The use of qualitative research methods to investigate the patient disease experience reported within the appraisal process offers a valuable opportunity to improve awareness of the burden of disease to aid healthcare professionals in their treatment considerations.