PURPOSE: To describe how researchers may improve their understanding of rare diseases, such as XLH, through the use of novel approaches. We will describe the National Institute for Health and Care Excellence (NICE) Highly Specialised Technology (HST) appraisal process and how the patient voice may bring value to this process. We will describe how a thematic analysis of patient submissions made during the HST process have increased understanding of the burden of disease.

DESCRIPTION: The proposed workshop will provide an overview of HST, XLH and its burden, and the process of thematic analysis. We will describe how in combination with NICE, patient groups and physicians we enabled the patient experience of XLH to be described to a wider audience.

NICE HST Process (10 minutes, NICE):

• An overview of the HST process, including a description of timelines, how patients and physicians input into the process, and how learning about the burden of disease direct from the patient can inform the discussion

XLH (10 minutes, Kyowa Kirin International):

• Extracts of video footage on XLH disease burden from a patient
• Summary of available data, or lack of data, on burden of disease in XLH
• Experience of the value of using novel approaches including retrospective data sources in qualitative analysis

Thematic Analysis (15 minutes, MAP BioPharma):

• We will provide a working example on the use of thematic analysis in eliciting patient preference in XLH
• Compare findings to published literature and physician testimony, to understand the added value of the analysis

Discussion (25 minutes)

• The use of novel innovative approaches to generating information using opportunistic data: utilising all available evidence in rare diseases
• Giving patients a bigger platform: respecting their efforts in contributing to the process and maximising the usefulness of their submissions, to increase understanding of XLH
• Collaboration with patients, physicians and the NICE was key