An insight into the various aspects of RVCL-S research worldwide during the first international RVCL-S meeting; from fruitfly models to clinical studies, and from MRI to functional ultrasound; an example of important translational research toward a better understanding of the disease.🧐

Last month, we hosted the first international RVCL-S meeting in Leiden, bringing together researchers from across the globe to discuss this rare hereditary disease. The event, held at the Hortus botanicus Leiden , centered on translational research. In the morning, discussions focused on the pathophysiology and potential therapeutic targets, while the afternoon highlighted clinical studies.

We were honored to hear from leading researchers such as Dr. Chantal Alkhoury (France), who discussed her cellular research, Dr. Elena Gracheva (Washington), who presented on fruitfly models (Drosophila), Prof. David Hunt (UK), who talked about DNA damage and the use of the UK biobank, and Dr. Marcel Woo (Germany), who highlighted the role of type 2 interferon.
Two pre-clinical researchers from Leiden also presented; Chelsey Linnenbank shared insights on her mouse models and the use of functional ultrasound for brain imaging, while Vasiliki Gkouzioti discussed human induced pluripotent stem cells for RVCL-S research

After a lovely lunch and a brief walk through the beautiful gardens of the Hortus, led by Else Tolner Prof. Mickaël Tanter (France), gave a lecture on the developments in functional ultrasound for brain imaging. He explained the potential role for pre-clinical and clinical research.

During the clinical part of the day; Dr. Dominique Hervé (France) shared a clinical case and Dr. Andria Ford (Washington) presented about brain MRI findings in RVCL-S patients as a promising biomarker. Most researchers are looking for the potential biomarker which can bring us closer to a treatment for this invalidating disease. Irene de Boer from Leiden told us about the importance of these biomarkers and which (combinations of) biomarkers might be interesting. Annelise Wilms closed the day with a talk about our natural history study (FORT) and the goal of this study.

The day concluded with engaging discussions and plans for future collaborations. Overall, it was an insightful day where we learned a lot from each other. Not only were the major successes shared, but also the challenges of studying such a rare disease were openly discussed. This was a significant step towards accelerating research and hopefully the first of many inspirational international meetings!

For more information about our research, see our website RVCL-S Research and follow our LinkedIn page (1) RVCLS Research Leiden: overzicht | LinkedIn

Drs. de Boer gave a presentation on oxygen saturation of the retinal blood vessels at the 10th congress of the European Academy of Neurology (EAN). Her research shows that the oxygen saturation of RVCL-S patients is higher in the veins of the retina compared to healthy controls. The difference in oxygen saturation between arteries and veins was smaller in RVCL-S patients. This teaches us more about how retinopathy in RVCL-S can develop.

Researchers from the LUMC and Amsterdam UMC have published a new article about the biomarkers NFL and GFAP in RVCL-S. They measured the levels of these biomarkers in blood and cerebrospinal fluid and compared them with healthy controls. They found increased NFL values in (pre-)symptomatic RVCL-S patients. They also found an association between NFL and GFAP levels and the patients’ cognitive function. You can read the full article here.

In January the Leiden University Medical Center (LUMC) has organized three online RVCL-S patient meetings. The evenings were a great success! There were several short presentations about the RVCL-S research. There was also an opportunity for patients and family members to ask questions to the doctors and researchers of the LUMC. A short summary of what was discussed during the patient evenings can be found here (Dutch only).

Researchers at the LUMC have recently published about abnormalities in the eyes of RVCL-S patients. With OCTA (Optical Coherence Tomography Angiography) scans they evaluated the blood vessels of the retina. They found that their were less blood vessels present in RVCL-S patients compared to healthy controls. Click here for more information!

Researchers of the LUMC have visited the European Stroke Congress (ESOC) in Lyon. They gave a short presentation about their work on RVCL-S. By visiting international congresses they try to increase the awareness of RVCL-S worldwide.