A revolutionary drug against cystic fibrosis. François Braun, Minister of Health, announced the extension of access to Kaftrio, an innovative treatment that does not cure the disease, but significantly reduces symptoms. Until now, this treatment was only intended for children over the age of 12 who carried a certain mutation in the gene for the disease.
One in 4,500 babies
Some 700 new young patients between the ages of 6 and 11, carriers of this same mutation, should thus benefit from this therapy. During the first quarter of 2023, “close to 5,000 people with cystic fibrosis will have access to this innovative treatment in France”, welcomes in a press release the association Vaincre la mucoviscidose
Since June 2021, the treatment is reserved in France for patients over 12 years of age. But last March, the High Health Authority issued a favorable opinion for early access from 6 years. And some 200 children of this age in therapeutic impasse had been able to benefit from it in an exceptional way.
In France, one hundred children with cystic fibrosis are born every year, an average of one in 4,500 newborns, according to data from Inserm. Today, the country has some 7,300 people affected by this disease, which manifests itself more frequently from birth or in the first months of life.
an incurable disease
Cystic fibrosis, which mainly affects the lungs and digestive system, is a serious and incurable genetic disease. It is precisely linked to an abnormality in the gene that encodes the CFTR protein, carried by chromosome 7, indicates Insert.
This protein is present in the membrane of respiratory or digestive cells and functions as a channel. In summary: it ensures the fluidity of the mucus present in the bronchi, the digestive tract, the liver or the pancreas. But when the gene for this protein is mutated, “the channel malfunctions,” continues Inserm.
This gives rise to the appearance of the symptoms of cystic fibrosis: the thickening of the mucus obstructs the bronchi until it causes respiratory failure; the hyperviscosity of pancreatic secretions causes marked malabsorption of food, which can lead to diabetes and pancreatic insufficiency.
Improvements from day 15
Developed by the American laboratory Vertex, Kaftrio is a combination of three molecules (known as triple therapy) of CFTR protein modulators. These modulators are not new, the first ones were developed in the early 2000s.
Some correct abnormalities in the protein, others stimulate its activity. As for Kaftrio, these are two substances that increase the number of CFTR proteins and another that improves their activity, details the Vidal medical dictionary. A treatment that is taken for life and that considerably reduces the symptoms of the disease.
“The results are extraordinary, they allow an almost normal life”, said the minister to Sunday newspaper. The High Authority for Health also welcomed a combination of drugs that allows patients to “breathe better, get sick less often and regain weight.” He also noted improvements “from day 15 of treatment.”
One third of patients excluded from treatment
“Access to Kaftrio represents a great relief for affected patients and their families”, applauds the association Vaincre la mucoviscidose. “Although this treatment does not cure and we should not expect such spectacular short-term effects in these children as those observed in severely affected adults, it gives hope for a different course of the disease, preserving and stabilizing their capital of health.”
Some doctors are even considering even more promising prospects. “The idea, really, is from three weeks of life, when the baby has absolutely no symptoms or significant lung damage, to be able to give these treatments to consider slowing down, or even preventing, the establishment of this disease at the lung level. “, believes by France 2 Isabelle Sermet-Gaudelus, pediatrician at Hospital Necker-Enfants Malades (AP-HP).
However, this drug is not intended for all patients, but only for those who carry at least one F508del mutation, the most common mutation, present in approximately 70% of patients.
This means that a third of patients with cystic fibrosis are excluded by their genetic profile or by a lung transplant, laments the association Vaincre la mucoviscidose. Patients who “continue to wait for therapeutic innovation”.
Source: BFM TV
