Birch triterpenes

Chiesi has announced that the Scottish Medicines Consortium (SMC) has approved its two rare disease therapies, Elfabrio (pegunigalsidase alfa) and Filsuvez (birch bark extract gel), to treat Fabry disease and junctional and dystrophic epidermolysis bullosa (EB), respectively. Elfabrio has been indicated for use in adults living with the debilitating genetic disease, while Filsuvez has been approved for use in patients aged six months and older, subject to data collection under the SMC’s ultra-orphan medicines framework expected by September. Rare diseases affect around 436,000 people in Scotland and the SMC’s approval aligns with the Scottish government’s action plan for rare diseases by improving access to specialist treatments, one of the four key priorities outlined in the UK Rare Diseases Framework. The SMC’s decision on Elfabrio, a novel enzyme replacement therapy, was based on positive results from phase 3 clinical trials involving 142 Fabry disease patients, of whom 112 received Elfabrio 1mg every other week, and comes after the National Institute for Health and Care Excellence recommended the therapy in 2023. The studies showed that Elfabrio was well tolerated and was similarly clinically effective and more cost-effective compared to the current treatments being used in the NHS, agalsidase alfa and migalastat. Affecting around one in 40,000 people, Fabry disease is a rare, progressive, X-linked inherited lysosomal storage disorder that causes chronic pain and progressive damage to vital organs, including the heart, kidneys and brain. Previously approved by the European Medicines Agency, Filsuvez is a sterile gel for cutaneous application used for the treatment of partial-thickness wounds associated with dystrophic and junctional EB and is currently the only licenced therapy for this patient population. EB is a heterogenous group of rare inherited skin disorders caused by mutations in the genes that encode skin anchoring proteins of the dermo-epidermal junction and is characterised by fragile skin that is prone to blistering and erosions due to minor trauma or friction anywhere on the body. Commenting on the approvals, David Garzón Lafuente, head of rare diseases, Chiesi UK and Ireland, said: “The positive announcements for [Elfabrio] and [Filsuvez] by the SMC are a result of close collaborative working between patient organisations… to support as many people living with a rare disease as possible.”

The capsule is intended for patients with Type 1 Gaucher disease. Credit: Sirikarn Rinruesee/Shutterstock.com. Edenbridge Pharmaceuticals has selected PANTHERx Rare to distribute Yargesa (miglustat) capsules for the treatment of Type 1 Gaucher disease. The medication represents the first oral treatment option for adults with mild to moderate disease who are unable to use enzyme replacement therapy. The glucosylceramide synthase inhibitor Yargesa exerts its effects through the substrate reduction therapy process. This treatment method lessens the accumulation of harmful glycosphingolipids, thereby reducing symptoms. Gaucher disease is a rare genetic disorder characterised by a deficiency in the glucocerebrosidase enzyme, which leads to the build-up of a lipid known as glucosylceramide. See Also: Lonza Group gets grant for patent granted for capsule composition with pullulan, setting system, surfactant MediciNova gets grant for ibudilast higher dosage oral tablet or capsule formulations PANTHERx Rare Pharmacy CEO Rob Snyder stated: “We appreciate Edenbridge Pharmaceuticals’ commitment to making a difference in the lives of patients with Type 1 Gaucher disease. “We are looking forward to serving the needs of the patients dealing with this illness, by streamlining the process associated with getting rare medications from the people who create them to the people who need them most, ultimately delivering better health outcomes to people living with rare diseases.” In February 2024, Chiesi Global Rare Diseases, a Chiesi Group business unit, selected PANTHERx Rare for the distribution of Filsuvez topical gel. Filsuvez topical gel treats wounds associated with dystrophic as well as junctional epidermolysis bullosa in adults and paediatric patients aged six months and above.