European Commission Approves Pediatric Cystic Fibrosis Drug Orkambi

The European Commission has approved a drug used for treating cystic fibrosis (CF) which is a label extension of Orkambi (ivacaftor/lumacaftor). The drug was previously used for treating cystic fibrosis patients six years and older, while the current approval grants the permission of use of drug for treating CF patients aged 2 to 5 years who have the most common form of the lung disease.

Cystic Fibrosis is a progressive genetic disease which affects around 75,000 people in Europe, North America and Australia. The disease which causes incessant lung infections is caused by missing or defective CFTR protein as a result of mutations in the CFTR gene. Cystic Fibrosis being autosomal recessive disorder, children must inherit two defective genes, one from each parent to be diagnosed with CF.

There are around 2000 mutations in the CFTR gene which are responsible for the absence of CFTR protein or non-functioning CFTR protein on the cell surface. The anomaly in the functioning of CFTR protein on the cell surface leads to poor exchange of water and salt within a cell in several organs.  As a result, an abnormally sticky and thick mucus gets built up in the lungs which causes lung damage and chronic lung infections eventually leading to death.

The approved drug is a combination of lumacaftor and ivacaftor which are already approved in the EU to treat patients with CF, aged 6 and older who have two copies of F508del mutation. Lumacaftor is designed to increase the quantity of mature CFTR protein at the surface of cell which targets the trafficking and processing defect of F508del-CFTR protein. Ivacaftor enhances the activity of CFTR protein as it reaches the cell surface.

The approval came after the conduction of a Phase III open-label study which collects rigorous information on the long term safety and tolerability of the new drug. The study included 60 patients which showed well toleration for 24 weeks on treatment with lumacaftor/ivacaftor. The safety profile of pediatric patients showed consistency with that of patients six years and older. The study also found improvements in sweat chloride which is a secondary endpoint in the 24th week. The study also reported that the most adverse effects include only cough, 63% of time while the most adverse events were mild and moderate in severity.

The drug is produced by Vertex Pharmaceuticals based in Boston-MA, USA. The executive vice president of the company, Reshma Kevalramani said that they are one step closer to their goal of bringing treatment to all CF patients after the European Commission’s approval.

Author: Priyanka Bhattacharjee

Priyanka Bhattacharjee is a seasoned research professional, with an insatiable quest for handling complex assignments, based on both pure-play consulting and market-research in the pharmaceuticals and healthcare domain. With over five years of experience, she is well-acknowledged in her field of handling critical research assignments and writing thematic papers. She regularly writes opinion pieces for various online news portals and magazines on a wide range of topics. Having the unique capacity of joining the dots, Priyanka’s exceptional communication skills makes her a pro at handling strategic clients, encompassing multiple domains of industry and business. While not at work, she is an ardent reader of books, pursues music and social activities such as teaching the underprivileged and visiting the old at elderly care centers.