RARE Daily

EC Approves Vertex’s Kalydeco for Children and Adolescents with CF

June 11, 2020

Rare Daily Staff

Vertex Pharmaceuticals said that the European Commission has granted approval of the label extension for its cystic fibrosis therapy Kalydeco to include the treatment of children and adolescents with cystic fibrosis.

The extension includes children ages 6 months and older and weighing at least 5 kg, who have the R117H mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene – the most common residual function mutation underlying cystic fibrosis (CF).

Cystic fibrosis is a rare, progressive, and life-shortening genetic disease affecting approximately 75,000 people worldwide. It is a multi-system disease that affects the lungs, liver, GI tract, sinuses, sweat glands, pancreas and reproductive tract. CF is caused by a defective and/or missing CFTR protein resulting from certain mutations in the CFTR gene. While there are many different types of CFTR mutations that can cause the disease, most people with CF have at least one F508del mutation.

These mutations lead to CF by creating non-working and/or too few CFTR proteins at the cell surface. The defective function and/or absence of CFTR protein results in poor flow of salt and water into and out of the cells in several organs. In the lungs, this leads to the buildup of abnormally thick, sticky mucus that can cause chronic lung infections and progressive lung damage in many patients that eventually leads to death. The median age of death is in the early 30s.

Kalydeco is the first medicine to treat the underlying cause of CF in people with specific mutations in the CFTR gene. Known as a CFTR potentiator, ivacaftor is an oral medicine designed to keep CFTR proteins at the cell surface open longer to improve the transport of salt and water across the cell membrane, which helps hydrate and clear mucus from the airways.

“A little over eight years ago, Kalydeco was approved as the first and only medicine to treat the underlying cause of cystic fibrosis in patients with specific mutations,” said Reshma Kewalramani, president and CEO of Vertex. “Since then, it’s been our goal to ensure that as many people with CF as possible are able to benefit from our treatments, and today’s label extension means that approximately 500 young patients in Europe, who have long awaited a treatment option, are now eligible for Kalydeco.”

The company said Kalydeco will be immediately available to additional eligible patients in Germany and shortly in countries where respective long-term reimbursement agreements have been previously secured. Vertex will work closely with all other relevant government authorities to secure access for eligible patients as quickly as possible.

In Europe, Kalydeco is already approved for the treatment of people with CF ages 18 and older with the R117H mutation, and in infants ages 6 months and older weighing at least 5 kg who have one of the following mutations in the CFTR gene: G551D, G1244E, G1349D, G178R, G551S, S1251N, S1255P, S549N or S549R.

Photo: Reshma Kewalramani, president and CEO of Vertex


Stay Connected

Sign up for updates straight to your inbox.