The first cystic fibrosis patient is treated with the corrective therapy of the DNA

It was exactly April 23In conjunction with the National Cyclapion Day, when the Fal Digeron Hospital gave the official leaving the leaving his clinical experience, which is being treated The first patient in Spain and the fourth in the world Fool DNA correction therapy. Treatment that aims to introduce a functional version of the CFTR gene into the cell nucleus to restore its activity and thus reduce the effect of this chronic and patriotic disease, more common in young children and adults.

“For the first time we have treatments that put a mark A before and after our patients to correct the genetic defect of the root. Antonio AlvarezCoordinator of the Adults Unit Cirrhosis at Val D. Digeron Hospital and a member of the Spanish Association for the Faculty of Surgery and Surgery (SEPA).

It is one of the different clinical experiences that focus on it New genetic treatments They are now ongoing. Without going further, The cystic fibrosis unit at the Catalan Center He also leads other projects from the vanguard: one with AntisentidoWho seeks to correct some specific mutations and the other with Messenger RNA Therapy.

These treatment developments coincide with an optimistic mile: Almost 58 percent of people with cystic fibrosis in Spain are already adultsA personality that can only be imagined a few decades ago. From Sepa, he insists on continuing to enhance fair access to innovative treatments, enhance research and maintain commitment to comprehensive and patient care.

Up to 97 % of the patients treated

This is why the Scientific Assembly estimates the last announcement of the European Pharmaceutical Agency (EMA), which agreed to expand a reference to a signal to Treatment Treatment With ElexacafTor/Tezacaftor/IvacafTor A Children of two years With at least one mutation is not of the first degree in the CFTR gene. This measure is a therapeutic teacher in the history of the disease, in the eyes of the entity, because it will allow the vast majority of people with them Case (Between 95 and 97 %) Access to treatmentFrom now, until now, the index has been restricted to patients over 6 years of age and with a limited number of mutations.

“This extension represents a real hope for hundreds of families,” said Esther Quintana, head of the Spanish fibrosis community and a member of the separation.

More than 2500 diagnoses in SNS

According to the latest data, currently There are 2578 people who were diagnosed with cystic fibrosis It is estimated that in Europe between 1/3000 and 1/6000 newborn children will suffer from the disease, in Spain from 1/4807, with differences between different independent societies. It mainly affects the respiratory system and the digestive system, as lung disease is the main cause of health change and deaths. Thanks to the progress in diagnosis, treatment and care, the average life expectancy is gradually increasing and becoming a serious disease.

The reason for changing a gene is called a membrane connection regulator from cystic fibrosis (CFTRIt is located on chromosome 7, which plays a major role in regulating salt and water across cells. If this gene does not work properly, some Smoke secretionsThis causes chronic, infection and inflammation, in different organs, which hinders the effective elimination of bacteria and molecules. More than 2000 booms are described in this gene, although the most common of which is Vinyl Alanin at the position of 508 (δF508).

N is unknownEnvironmental cause for this diseaseAlthough exposure to tobacco smoke, air pollution and allergens can contribute to the deterioration of long lung function in the long run