Two rare disease therapies approved in Scotland

Stamp of approval

The Scottish Medicines Consortium (SMC) has published final advice on two rare disease therapies.

Elfabrio (pegunigalsidase alfa), a novel enzyme replacement therapy (ERT), has been approved as a treatment option for Fabry disease in adults.

Also, 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.

Fabry disease is a debilitating genetic disease that can severely impact the quality of life of patients, reducing life expectancy in women by 15 years and in men by 20 years.

The decision brings Scotland in line with England and Wales, where Elfabrio was approved by the National Institute for Health and Care Excellence (NICE) in 2023.

“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. Today, 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,” said David Garzón Lafuente, Head of Rare Diseases, Chiesi UK&I.

Birch bark extract gel

EB is the name for a group of rare, genetic skin disorders. Birch bark extract gel is the only licenced therapy for junctional and dystrophic EB. It 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.

“People living with all types of EB desperately need treatments that can positively impact their symptoms and improve their overall quality of life. 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,” said Tony Byrne, Chief Executive Officer, DEBRA UK.

Diana Spencer, Senior Digital Content Editor, DDW

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