Journal Article

04121 Afamelanotide for the treatment of cutaneous phototoxicity of erythropoietic protoporphyria: the Scottish experience

Dawe, Robert S, Eadie, Ewan, Kerr, Alastair, McGuire, Victoria A, Marese O’Reilly

2024

Overview

Afamelanotide has been licensed for the phototoxicity of erythropoietic protoporphyria (EPP) in Europe since 2014. However, it has not yet been approved for use in the National Health Services of the United Kingdom (UK) countries. In Scotland, a framework has recently been developed by the Scottish Medicines Consortium (SMC) to assess ‘ultra-orphan’ medicines for very rare conditions. Through this route, the SMC has allowed some use of Afamelanotide in Scotland by making it available for a period of up to three years while clinical effectiveness data are gathered.To be considered as an ultra-orphan medicine four criteria must be met:the condition has a prevalence of 1 in 50,000 or less in Scotlandthe medicine has a Great Britain (GB) orphan marketing authorisation from the Medicines and Healthcare products Regulatory Agency (MHRA)the condition is chronic and severely disablingthe condition requires highly specialised managementAdditionally, the criteria for use of Afamelanotide in Scotland in this pathway are:recommendation by Scottish Cutaneous Porphyria Service (SCPS) and two consultant dermatologistsvisual analogue score for quality of life (QoL) effects ≥7/10 (on a 0 to 10 scale, with 10 being worst effects)time to prodrome ≤ 30 minutesinadequate response to narrowband ultraviolet B phototherapy.Response criteria that must be met if it is to be continued for a patient aredoubling of time to prodrome andat least a 2 point improvement of QoL VASThe first patient was treated in Scotland in 2022. By the end of 2023, 8 patients (7 treated in Dundee; 1 in Glasgow) had been treated in Scotland with 4 more being treated in 2024. So far, all individuals have continued treatment as responses have been good, with patients noting major improvements in quality of life for themselves and their families. This has been exemplified by one of our patients within a podcast as part of a patient engagement project to raise awareness and improve the lives of our patients: https://www.youtube.com/watch?v=Kkg0_T2sWs8Three patients have now had treatment for 3 consecutive years. We have observed a phenomenon of longer lasting improvement after the initial year of treatment with all but one patient and one patient has requested just two implants last year (2023) as she is doing so well.A number of challenges have been encountered, including:difficulty sourcing equipment to administer Afamelanotide implantsobtaining agreements for reimbursement from the patient’s resident Health Boardtime-consuming nature of implanting and documenting post-marketing study information which has been largely unfundedOverall, our experience so far has been positive and the use of Afamelanotide has currently been extended until September 2025 to enable further data to be collected. We remain hopeful that a favourable decision will be made by the SMC after this time to continue to make Afamelanotide available in Scotland.

• Publisher: BMJ Publishing Group LTD
• Subject: Patients / Quality of life