Vertex Pharmaceuticals Incorporated (NASDAQ:VRTX) has announced that the European Medical agencies have validated its Type II variation Marketing Authorization Application for KAFTRIO®.
MAA for expansion of KAFTRIO® indication
The MAA is for expansion of KAFTRIO® indication combined with ivacaftor in the treatment of CF in patients aged more than 12 years having a copy of the f508del mutation in cystic fibrosis transmembrane conductance regulator gene. Once approved, those eligible patients with one F508del mutation coy and CFTR gene mutation, such as residual function (f/RF) and gating (F/G) mutation will be eligible for treatment.
Vertex supported the MAA with positive results from the global third phase study with KAFTRIO, which it released in July 2020. The committee for Medicinal Products for Human Use will now review the application before issuing an opinion about potential approval for the patient population. Currently, KAFTRIO, combined with ivacaftor, is approved across Europe for the treatment of cystic fibrosis patients aged over 12 years with one copy of F508del mutation and one minimum function mutation of F508del mutation in the CFTR gene.
Cystic fibrosis affects around 75,000 people globally
Usually, CF is a life-threatening rare genetic disease that affects almost 75.000 people globally. It is a multisystem and progressive disease that affects the GI, liver, lungs, sweat glands, pancreas, reproductive tract, and sinuses. The disease results from a defective or/and missing CFTR protein, which causes CFTR gene mutations and children have to inherit two mutated CFTR genes to develop CF. Although several forms of CFTR mutations are the most common with CF, it entails having a copy of F508del mutations.
The company has designed KAFTRIO® to enhance F508del-CFTR protein quantity and function at the cell surface. Normally, the mutations will reduce the quantity of CFTR proteins on the surface, thus affecting the protein’s functioning. KAFTRIO®’s two active substances tezacaftor and elexacaftor, will increase CFTR protein quantity while ivacaftor enhances the defective CFTR protein’s activity. Combining these actions reduces the thickness of digestive juices and lung mucus, thus helping in relieving symptoms of the disease.