About 60,000 Europeans suffer from cystic fibrosis, a rare and life-threatening genetic disorder that is caused by a mutation of the CFTR gene, which regulates salt and water transport in the body. The CFTR mutation in cystic fibrosis patients allows too much salt and water into cells, which results in a build-up of thick, sticky mucus in the body’s tubes and passageways that damage the lungs, digestive system and other organs. Symptoms generally occur during early childhood and appear as persistent cough, recurring chest and lung infections and poor weight gain.

The European Medicines Agency (EMA) has recommended an orphan-designated medicine called Kalydeco (ivacaftor) to treat cystic fibrosis in children above the age of 6 years who have a G551D mutation in the cystic fibrosis transmembrane regulator (CFTR) gene. Kalydeco was reviewed in only 150 days by the Committee for Medicinal Products for Human Use (CHMP), under EMAs accelerated assessment procedure, which speeds up the reviewing process to supply patients with new drugs that are of major public health interest.

Unlike currently available therapies, which only address the disease’s consequences, Kalydeco is the first treatment that targets the underlying mechanism of cystic fibrosis by restoring the function of the mutated CFTR protein, therefore providing patients with an innovative therapeutic approach.

Kalydeco demonstrated improved pulmonary function in cystic fibrosis patients with the specific G551D-CFTR mutation in clinical studies. The drug’s most frequently encountered side effects included abdominal pain, diarrhea, dizziness, rash, upper respiratory tract reactions, including upper respiratory tract infection, nasal congestion, pharyngeal erythema, oropharyngeal pain, rhinitis, sinus congestion and nasopharyngitis, as well as headache and bacteria in sputum. Long-term safety data for Kalydeco is so far unavailable and will therefore, like all newly approved medicines be closely monitored.

So far, three of the eight medicines that have been approved under The Agency’s accelerated assessment have been orphan-designated medicines. The Agency is currently waiting for the E.C. to adopt the decision of their recommendations.

Written By Petra Rattue