The Use of Patient and Carer Perspectives and Real-World Evidence in Orphan Disease Health Technology Assessment Submissions

OBJECTIVES: To assess the use of real-world evidence (RWE) and the contribution of the patient/carer voice in orphan disease health technology assessment (HTA) submissions in the UK (NICE) and Canada (CADTH).

METHODS: The NICE database was searched from 18^th April 2022–2024 for orphan disease technology appraisal submissions (with Orphanet identifiers); matched submissions were manually identified on the CADTH website. Data were extracted into Excel® by one reviewer and checked by a second to reduce error and bias. A thematic longitudinal analysis was performed.

RESULTS: A total of 36 orphan disease submissions were identified from the NICE database (11 in year 1; 25 in year 2) and 22 matched submissions were identified on the CADTH website (7 in year 1; 15 in year 2). Out of the 58 total submissions, 46 (79%) were recommended, 7 (12%) were not recommended and 5 (9%) were recommended with conditions.

Most submissions presented randomized controlled trials (RCTs) as the key study source; RWE was used as a key study source in fewer than 25% of submissions. However, RWE was used in more than 60% of submissions to inform clinical background (e.g. prevalence of the disease) and economic model inputs (e.g. life expectancy, utilities).

Of the 58 total submissions, the majority included the patient voice in the submission. This predominantly involved patient experts participating in the committee meetings, and patient groups providing stakeholder feedback, patient testimonials or survey data as part of the HTA process.

CONCLUSIONS: An unexpectedly high proportion of orphan disease submissions used RCTs as key data sources. The number of drug submissions for orphan disease indications appears to be increasing year on year, which may reflect an increased enthusiasm for drug manufacturers to provide severely impacted patients and their families with critical new treatment options.