OBJECTIVES:

This project aims to build an understanding of UK reimbursement challenges in rare diseases. There is concern that sufficient concessions are not made for rarity when evaluating evidence. The initial stage of this project aims to identify the number and types of submissions in non-oncological rare diseases made to NICE and SMC over the past 20 years.

METHODS:

A search was conducted of NICE HTA and SMC submissions to identify technologies for rare (<5 in 10,000) and ultra-rare (<1 in 50,000) conditions. All potentially relevant submissions up to November 2021 were identified by targeted keyword searching, manual sifting, and review team consultations. Characterisation for comparison was performed.

RESULTS:

Between 2001 and 2021, there were 41 NICE appraisals (25 STA [61%], 15 HST [36%], 1 MTA [2%]) and 112 SMC submissions (56 full [50%], 4 ultra-orphan [4%], 19 abbreviated [17%], 8 re-submissions [7%], 25 non-submission [22%]) for rare conditions. Mean number of submissions per year across both agencies was 7 (range 1-23). From 2015, there was a marked increase in appraisals by both NICE (36/41 [88%]) and SMC (64/112 [57%]). Only childhood arthritis was the subject of more than two technology appraisals by NICE (n=3/41), whereas SMC conducted ≥5 appraisals for each of the following conditions: pulmonary arterial hypertension (9/112); childhood arthritis (8/112); immune thrombocytopenia (6/112); cystic fibrosis (5/112); and growth failure (5/112). NICE otherwise only completed one or two assessments for some of these conditions, and none for others.

CONCLUSIONS:

Spanning more than two decades, the SMC has assessed more technologies for a broader range of non-oncological rare conditions than NICE, and the vast majority of NICE submissions were conducted more recently. Future research would include analysis of submissions to build an understanding of the reimbursement challenges in rare diseases.