Early Targeting of Cystic Fibrosis
At the Heidelberg University Hospital, researchers have developed for the first time an effective preventative therapy for the disease in a mouse model using amiloride. By newborn screening for cystic fibrosis, it would be possible to put this causal preventative therapy to the test in humans.
The metabolic disease cystic fibrosis (CF) leads those afflicted to have chronic pain and damage in particular in the lungs but also affecting the intestines and other organs. A mutation in the CFTG-Gene (Cystic Fibrosis Transmembrane Conductance-Regulator-Gene) increases the activity of the so-called sodium channels in the mucous membranes which leads to the loss of salt and water. “The viscous and thick mucus which is thus formed cannot be easily cleared. It makes breathing difficult and offers a good growth medium for bacteria which can lead to chronic airway inflammation of the lungs“, says Professor Marcus Mall, who recently was appointed Heisenberg Professor for Translational Pediatric Pulmonology at the Heidelberg University Hospital. He leads the newly established Division of Pediatric Pulmonology, Allergy and Cystic Fibrosis Center at the Center for Children and Youth Medicine at Heidelberg University Hospital.
In a CF mouse model, Professor Mall and his team were able to demonstrate for the first time in a living organism that lung disease associated with CF can be successfully prevented by an early preventative therapy using amiloride. This drug acts as a blocking agent on the hyperactive sodium channels and thus attacks the disease at its roots. It has been shown that the timing of the onset of the therapeutic intervention is of crucial importance: if mice with a CF-like lung disease are treated with an inhalation therapy of amiloride prior to any symptoms appearing, then the mortality is significantly reduced and no thick mucus forms in the lungs, and airway inflammation and chronic lung damage can be prevented in the longer term.
For cystic fibrosis patients this would mean that the lung disease can be prevented effectively with amiloride. Life expectancy and the quality of life could be significantly improved. A precondition however is that the therapy has to commence very early, i.e. within the first weeks after birth because the first pathological changes occur within the first months of an affected baby which often do not show the first symptoms until the age of sereral month or years. It is already known from earlier clinical trials that amiloride has no longer any positive therapeutic effect once the lung disease has appeared.
The timely diagnosis and an early commencement of the therapy would be made possible by a newborn screening for cystic fibrosis. Unfortunately, this test, which is so essential for an early therapy to be successful, has still not been included in the newborn routine screening for metabolic disease in Germany. At the Heidelberg University Hospital, however, there was a pilot project for newborn screening for CF initiated in May 2008, which involves the screening of up to 80,000 newborns for CF. This project has already led to the diagnosis of CF in several patients using this method. “The screening of newborns for CF in Heidelberg is unique in Germany“, says Professor Mall.
To test the effectiveness of a preventative therapy using amiloride in a clinical trial and to make this option available to patients as soon as possible, Professor Mall and his team hope to see the early introduction of a full-scale screening of newborns in Germany. The screening could be undertaken as part of the newborn screening for metabolic diseases (known as the neonatal heel prick blood test). In Germany, unlike in some neighboring countries, neonatal screening for CF is being discussed but remains controversial. Therfore, it has not yet been incorporated into the newborn screening.
About the Technology Licensing Office (Technologie-Lizenz-Büro (TLB) GmbH:
TLB is the commercialisation agency for inventors from universities and other tertiary institutions in the southern German state of Baden Wuerttemberg. TLB‘s innovation managers bridge the gap between science and industry and offer a complete set of services from advising inventors and organising patent applications to negotiating technology license agreements. TLB’s broad patent portfolio comprises inventions in the areas of energy, measurement technology, microsystems, new materials, medicine, pharmaceuticals, chemistry, and biotechnology, as well as information and communication technologies.
der Baden-Württembergischen Hochschulen GmbH
Ettlinger Straße 25, 76137 Karlsruhe, Germany
Dr Uta Weirich
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