The proposal of Dr. Sakthivel Sadayappan concerns the investigation of the sarcomeer (smallest contractile unit in the heart muscle cell) in isolated heart muscle cells from mouse hearts.

The proposal by PhD student Allen Teng from Toronto is about breaking PLN within the cell.

Tom Bracco Gartner and Renée Maas won the European Crazy Idea Call. They will try to establish a human in vitro 3D model for cardiac fibrosis.

In December 2018 the Crazy Idea emphasis was on “early detection”. The winner was the project “Early Detection of contractile dysfunction in Phospholamban mutation carriers with echocardiographic deformation” by Karim Taha and Arco Teske. Using algorithms and image recognition software, the researchers will analyze echo images at certain places in the heart that are missed by the human eye. This technique will allow ultrasound images from the past five years to be analyzed again to see whether the onset of the disease could have been detected earlier. By now, we know better where in the heart the disease usually develops. With this software it is possible to look at this even more specifically. The software can also be used in the future, when the first therapies are tested on patients. Echocardiogram is a simple and less stressful examination for patients and one that could measure the effect of the therapy in this way.

In spring 2018, a Crazy Idea Call was awarded to Niels Grote Beverborg for a project with Antisense therapy. Antisense is a treatment that inhibits the creation of the entire PLN gene (both the good and the mutated part). His research focuses on an experimental drug from the manufacturers AstraZeneca and Ionis.

Patricia Vanhooydonck -vd Hoogen investigated if inflammatory reactions in the heart have an important role in causing PLN carriers to fall ill. For her research, she uses the blood that we have collected during the last PLN days.

Update:

Patricia Vanhooydonck-vd Hoogen will obtain her PhD at Utrecht University on  September 14. For the past 4 years, as a PhD student at Experimental Cardiology at UMC Utrecht, she has been researching one of the possible processes that play an important role in the development of heart failure, namely the inflammatory response. Partly thanks to the support of the PLN foundation, she has investigated the presence of an inflammatory response and inflammatory cells in heart tissue and blood from PLN carriers with heart failure. The goal of her thesis is to distinguish the cells that are involved in the chronic inflammatory response and may be involved in the development of heart failure, with the aim of developing new starting points for therapy.

Patricia currently works as a Project manager at the Netherlands Heart Institute. In her new role, she is still enthusiastically involved with the PLN foundation and the ongoing investigations.

We wish Patricia the best of luck!

Dr. Anke Tijsen works in Amsterdam UMC with the silencing technology. They try to label the mutated cell so they can interfere.

Treatment of people (with other heart problems) with Istaroxime is already permitted, but because the half-life of the drug is short, it must be infused. Long-term treatment causes (fatal) poisoning symptoms, which means that it can only be used for a short period of time. Prof. Antonio Zaza approached us from the University of Milano Bicocca in Italy. In collaboration with the manufacturer of the drug, he has developed analogues of Istaroxime that have a longer half- life and no longer have a toxic side effect. For additional research with these analogues, heart muscle cells from Stanford have also been made available to him.