SMC Approves Chiesi's Therapies for Fabry Disease and Epidermolysis Bullosa

Chiesi has recently announced that the Scottish Medicines Consortium (SMC) has granted approval for its two therapies designed to treat rare diseases. The therapies, Elfabrio (pegunigalsidase alfa) and Filsuvez (birch bark extract gel), have been approved to treat Fabry disease and junctional and dystrophic epidermolysis bullosa (EB), respectively.

Elfabrio is indicated for use in adults suffering from Fabry disease, a debilitating genetic disorder. Filsuvez has been approved for patients aged six months and older, with its use contingent on data collection under the SMC's ultra-orphan medicines framework expected by September.

Rare diseases impact approximately 436,000 individuals in Scotland. The SMC’s approval aligns with the Scottish government's action plan for rare diseases, which aims to enhance access to specialized treatments. This plan is one of the key priorities outlined in the UK Rare Diseases Framework.

The SMC’s decision to approve Elfabrio, an innovative enzyme replacement therapy, was based on favorable outcomes from phase 3 clinical trials involving 142 patients with Fabry disease. In these trials, 112 patients received Elfabrio 1mg every two weeks. The decision follows the National Institute for Health and Care Excellence's recommendation of the therapy in 2023.

Clinical trials demonstrated that Elfabrio was well tolerated by patients and showed similar clinical effectiveness and better cost-effectiveness compared to existing treatments used in the NHS, such as agalsidase alfa and migalastat. Fabry disease is a rare, progressive, X-linked inherited lysosomal storage disorder that affects approximately one in 40,000 people. It leads to chronic pain and progressive damage to vital organs, including the heart, kidneys, and brain.

Filsuvez, previously approved by the European Medicines Agency, is a sterile gel intended for cutaneous application. It is used to treat partial-thickness wounds associated with dystrophic and junctional EB. Filsuvez is currently the only licensed therapy available for this patient population.

EB comprises a heterogeneous group of rare inherited skin disorders caused by mutations in the genes responsible for encoding skin anchoring proteins at the dermo-epidermal junction. These disorders are characterized by fragile skin that is susceptible to blistering and erosions from minor trauma or friction anywhere on the body.

David Garzón Lafuente, head of rare diseases at Chiesi UK and Ireland, commented on the approvals, stating, “The positive announcements for Elfabrio and Filsuvez by the SMC are a result of close collaborative working between patient organizations to support as many people living with a rare disease as possible.”