Cystic fibrosis: triple therapy breakthrough?

Christiane Fux studied journalism and psychology in Hamburg. The experienced medical editor has been writing magazine articles, news and factual texts on all conceivable health topics since 2001. In addition to her work for, Christiane Fux is also active in prose. Her first crime novel was published in 2012, and she also writes, designs and publishes her own crime plays.

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A new combination therapy consisting of three active ingredients could drastically improve the lung function and quality of life of patients with cystic fibrosis in the future.

In the past, a diagnosis of cystic fibrosis usually meant an early death. “Fortunately, that has changed, most patients now reach adulthood. But life expectancy is still significantly reduced and many bear an enormous burden of disease, ”explains Dr. Marcus Mall from the Berlin Charité.

Complex inhalation applications are daily routine, and the opportunities to participate in social life are often severely limited due to the pronounced shortness of breath.

Effect of the most common genetic defect averted

For the majority of patients, a lot could get better in the future - more precisely for those 90 percent whose symptoms are caused by the most common genetic defect in cystic fibrosis: the F508del mutation. They and the other pathological gene changes in cystic fibrosis all affect the so-called CFTR gene.

As a result, certain ion channels in the mucous membrane cells only function incorrectly. The mucus that is produced in the lungs, intestines and sweat of those affected is then very viscous and causes the fatal symptoms.

Malfunction will be corrected

So-called CFTR modulators can correct malfunction of the CFTR channel. "This correction was particularly difficult with the main mutation F508del," says Mall. The mutation brings about several molecular changes that could not be effectively corrected with a single active ingredient.

Noticeable and lasting improvement achieved

With the combination of three active ingredients (elexacaftor-tezacaftor-ivacaftor), the team led by Mall and Prof. Peter Middleton from the University of Sydney has now succeeded in effectively influencing the various molecular defects. This is shown in a study with 403 patients from North America, Europe and Australia.

In contrast to a sham preparation, the triple combination brought about a noticeable and lasting improvement in the health of those affected. Sweat tests also confirm that the CFTR channel achieves around 50 percent of the function of healthy people.

Safe and well tolerated

The combination of active ingredients proved to be safe and well tolerated in the course of the study. Adverse side effects leading to discontinuation of treatment were observed in only one percent of the treated patients.

“The results of the study suggest that up to 90 percent of all patients with cystic fibrosis can be treated with the new triple therapy in the future. In specialist circles, this is considered a breakthrough in the treatment of this hereditary disease, which has hitherto been fatal, ”explains Prof. Mall.

Can cystic fibrosis be prevented in the future?

A preventive therapy that starts in infancy could significantly delay or even prevent the outbreak of the lung disease in the future. This would move cystic fibrosis from a fatal to a treatable disease for the majority of patients.

The American FDA approved the new triple therapy very quickly in the USA for patients with an F508del mutation aged 12 and over using the so-called fast-track procedure. An application for approval of the drug in Europe has already been submitted.

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