Presentation (CTI)

OBJECTIVES: For a medicine to qualify for orphan designation in the UK, the prevalence of a life-threatening or chronically debilitating condition must be ≤5 in 10,000. Small patient numbers present challenges for collecting clinical data in rare patient populations, often leading to clinical uncertainty. For rare illnesses, NICE can use a Highly Specialised Technologies (HST) pathway with a higher acceptable ICER threshold, however, not all orphan medicines meet the criteria. The objective of this study was to understand orphan medicine decision-making in England and Wales.
METHODS: Medicines with UK orphan designation were identified through the MHRA orphan register. The NICE website was searched (up to 9^th January 2025) for assessments and assessment pathway (technology assessment (TA)/HST), decision outcomes, and key drivers were evaluated.
RESULTS: 144 orphan medicines were identified via the MHRA orphan register. 83 (58%) had a completed NICE assessment across 99 indications with 94% recommended. Only 9% of positive recommendations did not require a commercial arrangement. All oncology orphan medicines were assessed via the TA pathway, 5 (10%) were not recommended while 4 (9%) were recommended via the Cancer Drugs Fund (CDF). High unmet need was a key driver for recommendation via the CDF. 34% of 50 assessments conducted for non-oncology orphan medicines were assessed via the HST pathway, with all medicines recommended, 18% with a managed access agreement (MAA). 32 (97%) of assessments conducted via the standard TA pathway were recommended, 9% with an MAA. Uncertainty in durability of treatment was a key driver for an MAA requirement.
CONCLUSIONS: These data suggest that assessment of orphan medicines via the standard NICE TA pathway, as opposed to the HST pathway, is not a barrier to reimbursement. However, while NICE recommended most orphan medicines assessed via either pathway, MAAs (including CDF) and/or commercial agreements were required for the majority of treatments.