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Two rare disease therapies approved in Scotland

The Scottish Medicines Consortium (SMC) has published final advice and approved two rare disease therapies. Rare diseases affect around 8% (436,000) of the Scottish population.1

Elfabrio®(pegunigalsidase alfa), a novel enzyme replacement therapy (ERT), has been approved as a treatment option for Fabry disease in adults, while birch bark extract gel has been approved as a treatment option for junctional and dystrophic epidermolysis bullosa (EB), subject to data collection under the SMC’s ultra-orphan medicines framework.2,3,4

The availability of both treatments addresses significant unmet patient needs, while supporting the Scottish Government’s action plan on rare diseases.

The decision on pegunigalsidase alfa marks an important step forward for the Fabry community. The condition, which affects around 1 in 40,000 people,5 is a debilitating genetic disease that can severely impact the quality of life of Fabry patients.6 It can cause chronic pain and progressive damage to vital organs, such as the heart, kidneys and brain.7 Research has shown that Fabry disease can reduce life expectancy in women by 15 years and in men by 20 years.8

The decision from the SMC offers an additional treatment option for those living with Fabry disease, bringing access for Scottish patients in line with England and Wales following approval by the National Institute for Health and Care Excellence (NICE) in 2023.9

The approval of birch bark extract gel, subject to data collection, provides further access for the rare disease community.
EB, sometimes referred to as ‘butterfly skin’, is the name for a group of rare, genetic skin disorders that cause the skin to become very fragile, with even minor trauma or friction causing severe blisters and wounds deep within the skin, leading to pain, scarring and constant itching. Those living with the condition can have a high risk of developing squamous cell carcinoma, infections and premature death.10 EB is usually diagnosed in babies or children.11
Birch bark extract gel is the only licenced therapy for junctional and dystrophic EB, and will be made available to eligible patients in Scotland following agreement between Chiesi and the Scottish Government on the data collection requirements, expected by September.

The approvals support the Scottish Government’s action plan for rare diseases by improving access to specialist treatments, one of the four key priorities set out in the UK Rare Diseases Framework.12
It also represents an important milestone towards driving equal access to innovative therapies for rare diseases across all UK nations.

Tony Byrne, Chief Executive Officer, DEBRA UK said: “People living with all types of EB desperately need treatments that can positively impact their symptoms and improve their overall quality of life, so it is hugely encouraging that the first treatment for patients with junctional and dystrophic EB was recommended by NICE in September last year and has now been recommended by the SMC, making the treatment available across the UK. On behalf of the EB community, I would like to thank Chiesi and the SMC for facilitating this approval, and all our members who supported the application. There is still much work to do to ensure approved treatments are available for all types of EB, but this is a promising first step. It provides hope today and will hopefully be a catalyst for future therapies.”

David Garzón Lafuente, Head of Rare Diseases, Chiesi UK&I said: “The positive announcements for pegunigalsidase alfa and birch bark extract gel by the SMC are a result of close collaborative working between patient organisations, the NHS, the SMC and Chiesi. We celebrate this outcome together and reinforce our deep commitment to supporting as many people living with a rare disease as possible, ensuring they can lead the lives they deserve. At Chiesi, we’re determined to deliver equal access to therapies for those eligible people who may benefit.”


1 Scottish Government. Illnesses and long-term conditions. Available at: https://www.gov.scot/policies/illnesses-and-long-term-conditions/rare-diseases/. Accessed June 2024.

2 The Scottish Medicines Consortium (SMC). pegunigalsidase alfa concentrate for solution for infusion
(Elfabrio®): final advice. Available at: https://www.scottishmedicines.org.uk/medicines-advice/pegunigalsidase-alfa-elfabrio-ft-resub-smc2665/. Accessed July 2024.

3 The Scottish Medicines Consortium (SMC). birch bark extract gel (Filsuvez®): initial assessment. Available at: https://www.scottishmedicines.org.uk/medicines-advice/birch-bark-extract-filsuvez-uo-pathway-smc2651/. Accessed June 2024.

4 The Scottish Medicines Consortium (SMC). Ultra-orphan medicines for extremely rare conditions. Available at: https://www.scottishmedicines.org.uk/how-we-decide/ultra-orphan-medicines-for-extremely-rare-conditions/. Accessed June 2024.

5 The MPS Society. Fabry: How common is Fabry? Available at: https://mpssociety.org.uk/conditions/fabry#how-common-is-fabry. Accessed June 2024.

6 Andonian C, Beckmann J, Mayer O, et al. Quality of life in patients with Fabry’s disease: a cross-sectional study of 86 adults. Cardiovasc Diagn Ther. 2022 Aug;12(4):426-435.

7 The MPS Society. Fabry. Available at: https://mpssociety.org.uk/conditions/fabry. Accessed June 2024.

8 Golfomitsos C, Sengupta A, Prasad U, Gray D. Fabry disease. Br J Cardiol 2012;19:41–5.

9 National Institute for Health and Care Excellence. Pegunigalsidase alfa for treating Fabry disease. Final Draft Guidance. Available at: https://www.nice.org.uk/guidance/ta915. Accessed June 2024.

10 Kern, J.S. et al. (2022) ‘Efficacy and safety of Oleogel-S10 (birch triterpenes) for epidermolysis bullosa: Results from the phase III randomized double-blind phase of the Ease Study’, British Journal of Dermatology, 188(1), pp. 12–21. doi:10.1093/bjd/ljac001.

11 Bardhan A, et al. Epidermolysis Bullosa. Nat Rev Dis Primers. 2020 Sep 24;6(1):78.

12 GOV.UK. UK Rare Diseases Framework. Available at: https://assets.publishing.service.gov.uk/media/5ff781138fa8f5640335254e/the-UK-rare-diseases-framework.pdf. Accessed June 2024.

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Joanna Harvey
Joanna Harvey
Marketing and Communication Executive | Uniphar Commercial


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