Presentation (CTI)

Problem Statement: X-linked hypophosphataemia (XLH) is a rare, lifelong, and progressively debilitating genetic disorder that significantly impacts patients' physical function, emotional wellbeing, and quality of life. Economic assessments often inadequately capture the full burden of disease. During the UK National Institute for Health and Care Excellence (NICE) assessment of a novel treatment for XLH, there was a need for real-world evidence to contextualize the impact of an effective treatment on the number of carers patients need and the extent to which caring for people with XLH affects quality of life.
Description: During NICE’s Technology Appraisal (TA993) key uncertainties were raised in the draft guidance around impact on carers. The company assessment assumed a spillover utility benefit for carers or family members. XLH being a genetic disorder, the committee noted the importance of quantifying the impact on family members, especially if they themselves were affected by XLH. Due to the scarcity of evidence on utility benefit for carers, XLH UK—a patient organisation—conducted a national survey following publication of the interim guidance. The survey collected quantitative data on caring responsibilities, including the number of carers an adult with XLH would have as well as qualitative insights on how treatment may impact family members’ quality of life. Insights from the survey were submitted as part of the patient organisation’s evidence and were referenced in multiple parts of NICE’s appraisal documentation, including the committee papers and the final appraisal determination. The evidence helped NICE understand the extent of the spillover effect and how an effective treatment may alter disease management and quality of life. This case demonstrates how patient-generated data was pivotal in shaping a positive reimbursement decision for a rare disease therapy.
Lessons Learned: This case underscores the importance and feasibility of integrating quantitative patient-reported evidence into HTA processes, particularly where standard clinical studies fall short. The XLH UK survey complemented trial data by offering a broader view of the disease burden. Challenges included ensuring methodological rigor in survey design given time limits, mitigated through collaboration with clinicians and patient experts. The success of this approach suggests a model for future patient-driven HEOR contributions, especially in the appraisal of orphan therapies.
Stakeholder Perspective: The primary stakeholders impacted were NICE (health technology assessor), the NHS (payer), and patients and carers. This case illustrates how structured patient and carer input can shape national-level reimbursement decisions and highlights the evolving role of patient organisations as contributors of impactful HEOR evidence.