Rare Daily Staff

Vertex Pharmaceuticals said that eligible cystic fibrosis patients living in Scotland will now have access to the company’s combination therapies Orkambi and Symkevi following the signing of an access agreement.

Ludovic Fenaux, senior vice president of Vertex International said the agreement would mean that approximately 400 eligible cystic fibrosis patients in Scotland would now have access to Orkambi or Symkevi.

As part of the five-year agreement, Vertex has also committed to collecting real world data on these medicines that will support any future submissions to the Scottish Medicines Consortium.

Cystic fibrosis (CF) is a rare, life-shortening genetic disease caused by a defective or missing cystic fibrosis transmembrane conductance regulator (CFTR) protein resulting from mutations in the CFTR gene. Children must inherit two defective CFTR genes—one from each parent—to have CF. There are approximately 2,000 known mutations in the CFTR gene. Approximately 900 people in Scotland live with CF. In the UK, the median age of death is 32 years. NHS Scotland estimates that one in 24 Scots have a CFTR mutation which, if carried by both parents, would lead to a child being born with CF.

Orkambi is a combination of lumacaftor/ivacaftor used to treat CF patients with the F508del mutation. In people with two copies of the F508del mutation, the CFTR protein is not processed and trafficked normally within the cell, resulting in little-to-no CFTR protein at the cell surface. Lumacaftor is designed to increase the amount of mature protein at the cell surface by targeting the processing and trafficking defect of the F508del-CFTR protein, and ivacaftor is designed to enhance the function of the CFTR protein once it reaches the cell surface.

Symkeviis s combination of tezacaftor/ivacaftor. Some mutations result in CFTR protein that is not processed or folded normally within the cell, and that generally does not reach the cell surface. Tezacaftor is designed to address the trafficking and processing defect of the CFTR protein to enable it to reach the cell surface, and ivacaftor is designed to enhance the function of the CFTR protein once it reaches the cell surface.

Photo: Ludovic Fenaux, senior vice president of Vertex International

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