France , Higher Authority for Health (HAS) Primary treatment for children 6 to 11 years of age authorizes early access to a combination of Kaftrio® and Kalydeco®, but only those who are heterozygous for the F508del mutation of the gene. CFTR and carriers of mutations of the corresponding gene with minimal function. According to 2018 data from the French Cystic Fibrosis Register (whose completeness is estimated at 90%) and taking into account the increase in the prevalence of cystic fibrosis (3.09% per year), 288 children will be affected by this early access authorization.
The HAS Transparency Commission already had a positive evaluation of this association for children under the age of 12. However, the Vertex Pharmaceuticals laboratory did not request expedited access to all indications of marketing authorization received in this age group. In fact, in order not to delay access to this treatment, and pending its coverage under common law, HAS has decided to authorize early access to this combination of treatments – of which 6 years The Transparency Commission for Children of Age has recognized the presumed innovative character. to 11 (heterozygous for the F508del mutation of the gene) CFTR and carriers of a gene mutation CFTR in the minimum function).
The combination of Kaftrio® and Kalydeco® is based on three active substances: ivacaftor, tezacaftor and elexacaftor. they act on proteins called CFTR, carriers of mutations in genes defective in people with cystic fibrosis CFTR (see box), Ivacaftor allows proteins to work better while tezacaftor and elexacaftor increase the amount of protein present on the cell surface.
Cystic fibrosis is the most common serious childhood genetic disease: in 2020, 108 children with cystic fibrosis were born in France. The disease is characterized by mutations in the genes encoding proteins. CFTR Which controls the transport of chlorine through the membranes of the mucous membranes of the bodily glands. If protein CFTR Looseness, sweating is abnormally salty and mucous secretions unusually viscous, leading to obstruction or secondary infection, especially at the bronchial and pancreatic level.
Until now, treatments given to children 6 to 11 heterozygous for the F508del mutation of the CFTR gene and carriers of the mutation of the corresponding gene with minimal function were only symptomatic and not specific for the type of mutation they were suffering from. They were based on four types of complementary interventions:
Respiratory management: physiotherapy, inhaled dornase alfa in patients over 5 years of age, antibiotic therapy,
nutritional and digestive care,
Implementation of optimal prevention of pulmonary infections while respecting the vaccination schedule,
Medical patient education.
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