Cystic fibrosis: HAS authorizes two drugs for children aged 6 to 11

Kaftrio and Kalydeco. It is the combination of drugs which has just been authorized by the High Authority for Health (HAS) for children aged 6 to 11 suffering from cystic fibrosis, and carrying specific genetic mutations. However, the Kaftrio will only be able to benefit patients”who are heterozygous for the F508del mutation of the CFTR gene”whose role is central in cystic fibrosis according to the health authority.

Just under 300 children are affected out of a total of just over 7,000 patients of all ages in France. Children aged 12 and over have, for their part, been authorized since August 2020 to take this combination of treatment. This authorization from HAS will allow immediate reimbursement of the treatment by Social Security.

A combination that contains three active substances

The combination of Kaftrio with Kalydeco, developed by the Vertex laboratory, consists of three active substances: ivacaftor, tezacaftor and elexacaftor. They act on a defective protein in cystic fibrosis, called CFTR, which is defective due to a mutation in the CFTR gene. Ivacaftor allows the protein to work better while tezacaftor and elexacaftor increase the amount of protein present on the cell surface.

An association already approved in some cases

As of January 7, a first extension of the marketing authorization for this drug was given by the HAS, for 6-11 year olds:

• Homozygous for the F508del mutation of the CFTR gene;
• Heterozygous for the F508del mutation of the CFTR gene and carriers of a residual function CFTR gene mutation;
• Heterozygous for the F508del mutation of the CFTR gene and carriers of a “gating” mutation of the CFTR gene;
• Heterozygous for the F508del mutation in the CFTR gene and carriers of a minimal function CFTR gene mutation.

The HAS therefore extended the use of this drug combination because of the benefits it could have on the health and quality of life of these patients. She would allow them tobreathe better, be sick less often and regain weight“ indicates the HAS in its press release.

What is cystic fibrosis?

Cystic fibrosis is the most common serious genetic disease. This disease is caused by different genetic mutations. In particular that of the gene coding for the CFTR protein. The latter regulates the transport of chlorine through the membranes of the bodily glandular mucous membranes.

If this protein does not work or works very little, the sweat is abnormally salty and the mucous secretions abnormally viscous, thus causing obstructions or secondary infections in the bronchi and pancreas. In 2020, 108 children were born with this disease.