New therapy is helping many cystic fibrosis patients

“Breakthrough”, a “milestone” – rarely has the world responded so enthusiastically to a new therapy such as this: An international team of Doctors headed by Peter Middleton of the University of Sydney has presented in the journal “NEJM” is a combination of three drugs against cystic fibrosis. The treatment is improving the Situation in up to 90 percent of the metabolic disorder patients suffering from significantly. In the U.S. the preparation Trikafta was the basis of an accelerated procedure on the 21. October approved for patients twelve years of age. In the case of the European authority EMA, an application for the authorisation is already available.

Most common congenital metabolic disease in Europe

Cystic fibrosis is the most common congenital metabolic disorder in Europe. Are born In Germany according to the Helmholtz-center in Munich every year, around 200 children with the disease.

In the case of the disease, defective chloride channels on the surface of cells that mucous glands in bronchi, pancreas, sweat, the digestive tract, and other organs is not so viscous that it flows properly. Follow the life and, so far, incurable disease about duration of cough, chronic inflammation of the diarrhea, and recurrent lung are threatening.

The disease is caused by mutations in the Gene CFTR. More than 1700 such changes can cause cystic fibrosis also cystic fibrosis (CF), called. The new therapy aims to by far the most common Mutation: Phe508del. Although approved in the past few years, several therapies, you are eligible only for smaller sub-groups of patients.

“In Europe, some 80 to 90 percent of patients, this most common Mutation,” says Sabine Renner, the outpatient clinic for cystic fibrosis at the Medical University of Vienna, directs.

The now published study, more than a hundred centres in 13 countries and more than 400 patients from the age of twelve with the Phe508del took part Mutation. Also, Renner and her colleagues cared for study participants.

Half of the subjects got the three active ingredients Elexacaftor, Tezacaftor and Ivacaftor, the other received a Placebo. After four weeks, lung function was improved compared to Placebo by approximately 14 percent, the Rate of lung impairments were 63 percent lower.

“After two weeks fitter”

“Already after two weeks, the patients under the therapy fitter, respirator are improved and show the enormous amount of lung function improvement,” says Sabine Renner. “In addition, an easy-to-follow weight gain shows, even in patients who previously always had to fight for every gram’.”

Two of the total of 200 with the drug-treated patients discontinued therapy due to hypertension and due to skin rash. A total of 28 with the combination-treated patients, serious side effects, compared with 42 in the similarly-sized placebo group. Among these side effects, among other things, a worsening of lung problems – they occurred in participants in the placebo group more frequently than in those receiving the drug combination. In General, the authors speak of an acceptable side-effect profile.

Who paid for it?

The study was funded by the manufacturer of the product, Supported by Vertex Pharmaceuticals.

Was admitted to the preparation Trikafta in the USA for patients over the age of twelve with the corresponding Mutation in the CFTR gene. The FDA writes that the triple product in the second, as yet unpublished study improved lung function compared to the current Two-combination of 10 percent.

For the first time a causal therapy for the majority of patients, says Mirjam steel from the German center for lung research (DZL), Heidelberg. “It is speak from my point of view, absolutely appropriate in superlatives of this therapy.” She speaks of significant improvements, which would for the patient in a better physical performance and an improvement in life expectancy reflect.

Not the other patients forget

Renner emphasizes, should not those Concerned to forget the not qualify for the therapy in question: “in patients with other mutations, with intolerance to Triple therapy, with a significant liver disease – what is Yes in CF, but quite often, patients planning pregnancy or are pregnant, and patients in whom interactions with other drugs is contraindicated.”

Similar to Francis Collins of the National Institutes of Health in Bethesda, Maryland (US state of Maryland) is expressed in a comment in the “NEJM”. The development of the new therapy was supposed to “be a reason for a big Celebration,” because in the future you could treat 90 percent of patients safe and effective. However, the other patients, you should not give up. The aim of the research a permanent cure that works for all Concerned to be.