Presentation (CTI)

OBJECTIVES: From 13 January 2028, orphan medicines will undergo JCA as part of the European Union’s HTA Regulation. Systematic identification of evidence will be required, including patient registry data. It is unclear whether or how this will be considered in view of the stated preference for randomised controlled trial evidence. This study aimed to explore whether and how patient registry data have been used in national HTAs for rare diseases and to identify any learnings for JCA.
METHODS: The INAHTA (International HTA) database was searched for published HTAs in rare diseases, focussing on muscular dystrophy, spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD). Articles were limited to English language. Assessment documents were reviewed to identify if patient registry data were used, and if so, how. Data were recorded on country, year, disease of interest, and whether or how patient registry data were used.
RESULTS: Twelve HTAs were identified that were relevant and accessible. HTA organisations were from Austria, England and Wales, Germany, Republic of Ireland and Scotland. Six of the assessments did not include patient registry data. Of the remaining 6 that stated the use of patient registry data, 4 were for SMA, 2 were for DMD, and 3 were reviews following a period of managed or other access to the intervention. In the 3 original appraisals, patient registry data were used for background information on symptoms and outcomes or for comparative efficacy for existing treatments. In the HTA reviews, data were used for long-term comparative efficacy or were considered alongside trial data for outcomes information.
CONCLUSIONS: Based on national HTAs, this study suggests that patient registry data may be valuable in JCA for rare diseases where trial data for existing therapies are limited and of use for background information on symptoms and outcomes.