A team investigating the pediatric inflammatory disease juvenile dermatomyositis (JDM) has received a € 350,000 grant from the Prinses Beatrix Spierfonds (Dutch Neuromuscular Foundation) for the development of a model that more accurately can predict disease progress. The JDM research team – consisting of Prof. Annet van Royen-Kerkhof, MD PhD, Dr. Marc Jansen, MD PhD, Prof. Femke van Wijk, PhD, and PhD candidate Jan Willem Marsden, MD – concerns a long-term collaboration between the Wilhelmina Children’s Hospital (WKZ) and the Center for Translational Immunology (CTI) at UMC Utrecht.
Juvenile dermatomyositis (JDM) is a rare pediatric immune mediated myopathy which is diagnosed in approximately ten children each year in the Netherlands. It causes difficulty in walking and standing, as well as a characteristic skin rash. In severe cases, swallowing or breathing problems also develop, with the risk of death. Current treatment consists of, among other things, long-term, high-dose prednisone. This drug often causes severe side effects, with drastic consequences for the quality of life. In approximately half of the children, the disease remains uncontrolled despite treatment, or flare ups occur after tapering off the medication. In these patients, there is a critical need for new therapies. However, it is not possible to predict which children will respond to therapy, which will experience a flare-up of the disease, and which will not. This leads to overtreatment in some patients, resulting in unnecessary side effects, and to undertreatment in another group, who consequently experience more disease symptoms.
Researchers have previously demonstrated that certain inflammatory biomarkers (interferons) in the blood correlate with disease activity. These biomarkers are already used in clinical practice, but the researchers now want to combine multiple biomarkers into a new test score: the Interferon Score (IBIS). The goal of the study is to use the IBIS to accurately predict which children can safely reduce medication and which require intensified treatment. The results of this study will subsequently be internationally validated.
The goal of this test score is not only to predict the course of the disease but also to lay the foundation for new biomarker-driven treatment studies in the future. Such targeted therapies (for example, the so-called JAK inhibitors) are aimed at inhibiting the interferon-mediated inflammation process in JDM. The biomarkers can help select the right patients who can benefit from this specific therapy, and the test score can help safely taper therapy at a later stage.
On the Prinses Beatrix Spierfonds website, pediatric rheumatologist and researcher Marc Jansen, MD PhD (Department of Pediatric Rheumatology and Immunology, UMC Utrecht) says about this study: “We are living at exciting times. New, promising medications are available that can specifically inhibit interferon, which plays a key role in JDM. These medications seem promising in children with JDM, but are rarely used in this disease. With this project, we aim to change that.”
