In het LUMC different types of research is being performed. We perform both fundamental (= research aimed at understanding disease mechanism) and clinical research.

Better understanding of the disease and its progression

In the LUMC we have been collecting information about the health status of RVCL-S patients since the 90’s. Soon we discovered that some patients pass away at a relatively young age, while some patients pass away around the age of 70 years. We are trying to find out where this difference comes from. Between 2014 and 2015 we performed a large study into the complaints of patients with RVCL-S (RVCL-ID study). Recently, a new study has been started with the aim to better understand the natural history of the disorder (see FORT below on this page).

Predictive biomarkers

We are trying to find biomarkers that can predict when disease onset occurs and when the disease will progress. Biomarkers are measures of a biological state that can be used to indicate the progression of a disorder, examples are signal molecules in blood or findings on images of the brain. Biomarkers will likely be used in the future to help test the efficacy of new treatments for RVCL-S. More knowledge about biomarkers can also help develop future therapies.

Identify disease mechanisms

Knowledge about disease mechanisms is indispensable for finding new treatments and for better monitoring of the disease. We use patient material (e.g. blood, cerebrospinal fluid, but also tissue samples), cell lines of patients and if necessary animal models. This type of research forms the basis of progress in the fight against the disorder.

We continually search for the practical application of this gained knowledge (translational knowledge). Multidisciplinary teams, with researchers working in laboratories and physicians work together on these research projects. This allows for a two way street: from patients to fundamental research and from fundamental research to patients. With this, we try to quickly translate our knowledge to clinical practice. This benefits the patients.

The LUMC is the national referral center for RVCL-S. A such, we have more then 25 years of experience in clinical care and research. The LUMC was one of the leading centers whose research led to the discovery of the disorder and we were one of the first groups to describe the clinical complaints that are caused by RVCL-S. Together with our international collaborators we discovered the gene (TREX1) in which mutations can cause RVCL-S. This step was essential for correctly diagnosing patients.

We played an important role in discovering the systemic manifestations of RVCL-S (commonly damage to the liver and kidney). We also found indications that a dysfunction in the endothelium (the inner layer of blood vessels) play an important role in RVCL-S. We found endothelium dysfunction in the vessels of both the arm and the brain. We also found elevated ‘endothelium markers’ in the blood of patients.

We are trying to find biomarkers that can predict when disease onset occurs. We already found that the retina of patients is thinner than in healthy participants. This also occurs in the early stages of disease, when the ophthalmological examination is still normal.  

Additionally, the LUMC has made it its mission to promote knowledge transmission about RVCL-S to physicians worldwide. We want to prevent that patients receive the wrong diagnoses. Therefore, we publish clinical guidelines that can assist physicians in recognizing and treating RVCL-S.

The RVCL-S research team of the LUMC collaborates with physicians and researchers from across the world. Among our collaborators are Amsterdam University Medical Center, Clayco Foundation, Cleveland Clinic, Erasmus Medical Center, Liverpool Hospital, Ludwig-Maximilians Universität, Physics for Medicine Paris, University of California, University of Pennsylvania, University of Washington, and University of Sydney.