Abstract
BackgroundIn the absence of a framework designed to evaluate medicines for rare diseases in the UK, most orphan medicines are appraised by the National Institute for Health and Care Excellence (NICE) through the Single Technology Appraisal (STA) process.ResultsAn analysis of STA appraisals of orphan and non-orphan medicines revealed that orphan medicines were subject to a significantly longer mean time in the NICE process than non-orphan medicines [370 days (n = 44) vs. 277 days (n = 118), p = < 0.0001]. A higher proportion of orphan STAs required more than one Appraisal Committee Meeting (ACM) versus non-orphan STAs, and orphan STAs were disadvantaged by worse outcomes with respect to positive recommendations than those orphan medicines assessed by Highly Specialised Technology evaluation (HST).ConclusionsThe uncertainties inherent to developing orphan medicines may contribute to these disadvantages. Improved understanding of the challenges in drug development for orphan medicines and clearer guidance for decision makers on navigating uncertainty in the HTA process may promote greater equity in access to medicines across rare and common conditions.
Highlights
In the absence of a framework designed to evaluate medicines for rare diseases in the UK, most orphan medicines are appraised by the National Institute for Health and Care Excellence (NICE) through the Single Technology Appraisal (STA) process
There were 39 STA appraisals with missing data on eligible population size which were excluded from the analyses (Fig. 1)
A further analysis by eligible population size demonstrated no significant difference in mean time in NICE for non-orphan STAs with an eligible population size < 5000 compared with > 5000 patients (284 vs. 270 days, p = 0.5)
Summary
There are an estimated 6000–8000 rare diseases, and their cumulative impact is substantial. Over half are life limiting, three-quarters affect children and patients experience average delays of between six and eight years from the onset of symptoms to a definitive diagnosis [1, 2]. A subset of ultra-orphan diseases has been defined as those with a prevalence of ≤ 1 in 50,000 patients [5, 6]. This equates to approximately 28,143 patients for orphan conditions and 1126
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
