The treatment would cure the most common form of cystic fibrosis.
Two hundred children are born with cystic fibrosis each year in France. This rare genetic disease affects the respiratory system in particular. Two studies show that a combination of three molecules would cure it. They were published in The New England Journal of Medicine and The Lancet.
A genetic mutation
Cystic fibrosis is caused by an alteration of the CFTR gene, for Cystic fibrosis transmembrane conductance regulator. This makes it possible to encode the CFTR protein which is present in the cells of certain mucous membranes of the human body, in particular of the respiratory and digestive systems. Its role is to facilitate the passage of molecules between the interior and exterior of cells. For people with cystic fibrosis, this functioning is modified, which causes inflammation of the mucous membranes, and thickening of the mucus. The most common symptoms are the appearance of chronic obstructive pulmonary disease (COPD), respiratory or/and pancreatic insufficiency and various infections.
Two separate trials
For most patients, cystic fibrosis is linked to the mutation Phe508del because of it, the CTR protein is eliminated and trapped inside the cells. Until now, the treatments available were based on the combination of two types of molecules: a corrector to prevent the elimination of the protein, tezacaftor and a potentiator, to activate the protein inside the cell, ivacaftor. In these two trials, elexacaftor was added. 403 people participated in the first, for two years, all had the mutation Phe508del : 200 patients received this new treatment and 203 took a placebo. 107 people participated in the second research, which lasted 4 weeks: 55 received triple therapy, 52 the combination of the two molecules.
New hope for the sick
The new treatment significantly improves respiratory function: by 14 points compared to the placebo, and by 10 points compared to the old treatment. In The world, the president of Vaincre La Mucoviscidose, considers that the treatment is promising. According to him, 3,600 people would be eligible in France. According to Inserm, today, the life expectancy of sick people is 40 years. She was 5 years old in the 1960s.
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