Cystic fibrosis: how a treatment revolutionized the lives of patients

It is a revolutionary treatment for cystic fibrosis, which can now be offered to a large number of French patients and promises them a more “normal” life. Kaftrio, produced by the American laboratory Vertex, is part of an innovative category of drugs against the disease of genetic origin, which inexorably deteriorates the respiratory and digestive systems and was once often fatal, with death in childhood or l 'adolescence.

Kaftrio is considered by associations to be revolutionary, being capable, for certain patients, of transforming cystic fibrosis - which affects around 120 births per year - into a chronic and stabilized pathology. Delivered in the form of tablets for life, this triple therapy (a combination of three molecules) significantly reduces the effects of the disease, particularly particularly debilitating lung conditions.

» READ ALSO – Tremendous hope against cystic fibrosis

It has been reimbursed in France since the summer of 2021 for patients over 12 years old and, in 2022, its access was generalized to children aged 6 and over. In September 2023, the High Authority for Health (HAS) decided to open early access to treatment to patients aged 2 to 5 years. Ultimately, the researchers envisage that a prescription may be possible from one month of life.

“What France has obtained is exceptional”, rejoiced this week at a press conference David Fiant, the president of “Vaincre la cystic fibrosis”. “Ultimately, we can assume that 85% of French patients will be eligible for this treatment.” And if the disease remains “a “slut” that cannot be cured”, the children now treated “will have a more normal life than their elders”, added Thierry Nouvel, general director of the association. “Among the youngest, we can now theoretically think that the disease will not take hold,” rejoices Isabelle Sermet-Gaudelus, head of the cystic fibrosis unit at the Necker-Enfants Malades hospital – AP-HP. “We will follow these children very precisely, to also assess the potential side effects of the treatment. But for the moment we have no warning signs. With Kaftrio, we have turned a page on the disease.”

This is all that Caroline Duez hopes for her son Otto, 2 years old. Thanks to the recent decision by health authorities, he will be able to start treatment within a few weeks. “When we learned of the diagnosis at birth, we had in mind the fate of Grégory Lemarchal”, an artist who died at the age of 23, in 2007, as a result of the illness. “We were immediately told that the research had evolved, we were told about the Kaftrio. The fact that he can benefit from it before starting school and have a normal education is unexpected.

» READ ALSO - Neonatal screening will finally expand in France

However, Kaftrio is only intended for carriers of a so-called F508del mutation, relatively common in patients with cystic fibrosis. There remain the others, the 15% of patients who do not produce the associated protein and do not “respond” to Kaftrio. For example, Mohamed Hassani's two children, Suleiman, 8 years old, and Rimel, 4 years old, both affected by the disease. “We fight every day so that our children have a better life,” the father told AFP, referring to “taking daily medication and physiotherapy” as well as “frequent hospitalizations”. “We hope that a treatment can work for them,” he says.

All hope lies in research progress. “For the moment, we have not found anything” for these children who are not eligible for Kaftrio, admits Isabelle Sermet-Gaudelus. Different avenues are currently being explored. Scientists are studying ways to correct molecular alterations in patients with a rare genetic profile. Other approaches are being considered, including the administration of messenger mRNA molecules. “We will benefit from recent research on vaccines against Covid,” rejoices Isabelle Sermet-Gaudelus.