New Combination Therapy for Cystic Fibrosis Being Reviewed by FDA and EMA – Rare Disease Report

Vertex Pharmaceuticals has announced that both the U.S. Food and Drug Administration (FDA) and European Medicines Agency (EMA) have accepted its applications for the use of the tezacaftor/ivacaftor combination treatment in a subset of patients with cystic fibrosis (CF).

The application acceptance is for people with CF ages 12 and older who have 2 copies of the F508del mutation or an F508del mutation and 1 residual function mutation that is responsive to tezacaftor/ivacaftor.

The news comes just 1 month after Vertex announced positive data from Phase 1 and Phase 2 studies of 3 drugs being used in CF patients with these mutations; 2 of those drugs were tezacaftor and ivacaftor and the third was VX-440. The combinations of tezacaftor/ivacaftor and tezacaftor/ivacaftor/VX-440 are being investigated separately in the same subset of CF patients (who have 2 copies of the F508del mutation or an F508del mutation and 1 residual function mutation).

In March, it was reported that Phase 3 studies testing the combination of tezacaftor and ivacaftor in CF patients met their primary endpoints with statistically significant improvements in lung function in CF patients.

CF is an often-life-threatening hereditary disorder that causes damage in patients lungs and digestive systems. Common symptoms include frequent lung infections, heavy coughing and difficulty breathing. Current treatment options for the condition include management of the symptoms, and, it currently affects an approximate 75,000 people in North America, Europe and Australia.

CF is caused by a faulty or absent cystic fibrosis transmembrane conductance regulator (CFTR) protein, and in CF patients with the F508del mutation, the CFTR protein is not processed, or folded, normally within the cell and usually does not reach the cell surface.

If approved, the tezacaftor/ivacaftor combination treatment would become Vertexs third medicine to treat the underlying cause of cystic fibrosis, offering an important new treatment option for a large group of patients with this rare and life-shortening disease, said Jeffrey Chodakewitz, M.D., Executive Vice President and Chief Medical Officer at Vertex in a press release. We look forward to working with the agencies to facilitate a rapid review of these applications.

Tezacaftor is intended to address the processing defect of F508del-CFTR and permit the protein to reach the cell surface, while ivacaftor can further enhance the it's function.

If approved, the combination will be the third of Vertexs drugs approved for CF patients and the second specifically intended to treat patients with F508del mutations; Orkami (lumacaftor/ivacaftor) is also approved for patients with mutations.

The third drug, Kalydeco(ivacaftor), is approved to treat CF in patients age 2 years and older who have one of the following mutations in their CF gene:G551D, G1244E, G1349D, G178R, G551S, S1251N, S1255P, S549N, S549R,orR117H.

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New Combination Therapy for Cystic Fibrosis Being Reviewed by FDA and EMA - Rare Disease Report