OBJECTIVES: With the emergence of transformative therapies for rare and neglected diseases, several HTA bodies have implemented alternative appraisal pathways (e.g. the highly specialized technology [HST] pathway by NICE in 2015) to ensure that recommendations on these potentially high-cost therapies are made consistently and fairly, whist recognizing and rewarding the scale of the benefit they provide. This research aims to evaluate the relationship between the epidemiology of the disease, the HST recommendation for the treatment, and the number of patients treated.

METHODS: All 8 published HST guidance were identified from the NICE Website and the disease prevalence/incidence, and recommendations were extracted. Patient access data was obtained via a NHSE Freedom-of-Information request (04/03/2019).

RESULTS: Eight HSTs have been positively recommended by NICE since January 2015, with a median delay from EC marketing authorisation of 21 months (range: 7-38 months). However, the number of patients treated by NHSE were very low in some instances: zero patients for Strimvelis® (HST7), ≤5 for eliglustat (HST5), and ≤5 for burosumab. These were lower than any reported estimates in their respective HST appraisals (Strimvelis®: 3 diagnosed/year). In only one HST was uptake substantially higher than predicted: eculizumab (HST1), with an estimated 20-30 patients diagnosed-per-year (estimated total uptake of 75 from recommendation), where the actual number treated since January 2015 was 154 patients.

CONCLUSIONS: Few technologies have been recommended under the HST pathway to date and there remains a disparity to real-world patient access, with near-zero rates of prescribing for several. This may reflect lack of physician awareness, limited patient access to specialist diagnosis, potential geographical/logistical limitations, and lack of infrastructure to support delivery of complex therapeutic products. Manufacturers need to ensure that clear plans are in place to support access beyond national reimbursement, including delivery infrastructure and a clear physician communication and engagement plan