Cystic fibrosis is always fatal

A new cure for the deadly cough : Breakthrough for cystic fibrosis patients - but deficiencies in the system

Everyone has struggled with a persistent cough that took weeks to dissipate. But what for most people is just the annoying symptom of a temporary cold, cystic fibrosis patients suffer from for a lifetime.

Around 8,000 people in Germany live with this genetic metabolic disease, which makes the protective mucus in the lungs too thick and therefore leads to chronic coughs and frequent pneumonia. Because the digestive system and other organs are also disturbed, downright "clogged" by the viscous mucus, life expectancy in the past century was still less than 40 years. Various treatments have changed that for the better, to an average of 50 years.

Now a drug, "Trikafta", has been approved by the drug authorities in the USA that could further extend the life of 90 percent of all cystic fibrosis patients - if the health systems are willing to pay the high price that the US biotech company is willing to pay "Vertex Pharmaceuticals" estimates it: 311,000 US dollars.

A defective ion channel causes a lifelong cough

Since 2001, the Boston company has been developing drugs against cystic fibrosis, also known as cystic fibrosis (CF) - the most common hereditary metabolic disease in the German and US population. Since 2012, she has launched four CF drugs, all based on the knowledge of the cause of the disease that researchers discovered in 1989: mutations in a gene on chromosome 7, the CFTR gene. It contains the information needed to build a channel in the shell of cells through which chloride ions can be transported. If the chloride channel is missing or if it is defective due to the mutations, the body can only form viscous mucus.

In Germany, every 25th person carries a CFTR mutation on one of his two 7th chromosomes, inherited from his parents - and remains healthy as long as at least one intact CFTR gene can produce functioning chloride channels. Only children who inherited mutated gene variants from both parents became ill - in Berlin and Brandenburg there are around 600 patients. Nationwide, there are around 200 children per year in addition to the 8,000 patients who are diagnosed with the disease during newborn screening.

Vertex had already launched a CF drug in 2012, "Kalydeco". However, it was only suitable for six percent of the patients. Only in these was the chloride channel changed by the gene mutation in such a way that the active ingredient (ivacaftor) “fit” and made the defective channel more permeable to chloride ions. Instead of looking for a completely different active ingredient that was suitable for all the many different channel changes, Vertex combined different active ingredients. The result was a combination of three substances that were found to be effective in 90 percent of patients in clinical studies: Tricafta can therefore increase the volume of air that CF patients can breathe in within one second by an average of 14 percent. That doesn't sound like much, but it can make the difference between life and death for the patient.

Approval in Germany planned for summer 2020

In Germany, Trikafta is expected to be approved by the European approval authority in summer 2020. It remains to be seen to what extent patient care will then improve. Because medication alone does not do justice to the often complex course of the disease, as the therapy has to be individually adapted. Therefore, the patients are dependent on interdisciplinary treatment by specialists, physiotherapists, psychologists, dieticians and nurses. And there are far too few of them.

According to a study by the WifOR Institute in Darmstadt on behalf of Mukoviszidose e.V., which is available exclusively to the Tagesspiegel, there is a shortage of around five specialists per outpatient department. Currently, almost every second position in the care of cystic fibrosis patients cannot be filled. “It's a constant battle for funds and personnel,” says Doris Staab, head of Germany's first Christiane Herzog Center for the treatment of cystic fibrosis patients. 400 CF patients are cared for at the institute, which is part of the Berlin Charité.

“Many adult patients from northern and eastern Germany come to us in Berlin because they are not adequately cared for in their hometowns,” says Staab. The treatment of adult cystic fibrosis patients in particular is very time-consuming and complex due to the multi-organ diseases. In the past, patients were barely older than 18 years, but today more and more adults are being treated, whose therapies and drugs are expensive.

"Financing must be secured in the long term"

But without subsidies, for example from the “Christiane Herzog Foundation for Cystic Fibrosis Sufferers”, the 20-bed center could not offer such comprehensive care. The regular budget is 150,000 to 200,000 euros per year. In addition to the Berlin center, the foundation supports five of the roughly 90 centers in Germany with a total of 700,000 euros.

[Note: November 8th takes place for the 20th time for invited guests Gala dinner of the Foundation for Cystic Fibrosis Patients in the water tower on the Euref campus. Events and paintings are auctioned at the benefit dinner. On the initiative of Klaus-Dieter Heinken from the Lions Club Intercontinental, who has supported the foundation for years, the Friends of the Christiane Herzog Center in Berlin were founded. Anyone can become a member there and support the Christiane Herzog Center. November 9th thinks Christiane Herzog Day at the Beuth University of Applied Sciences, Luxemburger Strasse 10, 13353 Berlin. From 10 a.m., information on therapies and nutrition will be provided in seminars and lectures.]

There is currently a lack of around 480 specialists in CF care in Germany. According to the study, the gap will have grown to 520 skilled workers by 2030. Almost a third of them are doctors. But the shortage of skilled workers will also have a massive impact on the nursing staff. 430 specialists from the non-medical sector alone will be lacking in 2030.

The financing of the CF supply must be secured in the long term, demands Staab. But at the moment it is not even possible to get flat rates for outpatient care. The care emergency is already immense. “Such an infrastructure, which is necessary for the chronically ill, is not provided for in the health insurance budget,” says Doris Staab. “But we want to give our patients a better quality of life and, above all, a longer lifetime,” says Staab.

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