Batten Disease - Beyond the Blind Spots

Abstract

Batten disease (CLN3 disease) represents a major cause of childhood-onset dementia. Despite the current absence of treatment options, (early) recognition is crucial to avoid a diagnostic odyssey and ensure tailored counseling as early as possible. The University Medical Center Utrecht (UMCU) represents together with the Bartiméus Institute the national center of expertise for Batten disease, providing a unique opportunity to study this devastating disorder. In her PhD thesis, Willemijn Kuper states that the main reason why Batten disease is still untreatable, is because we do not yet fully understand the disease. This lack of insight is a common problem in rare disorders: due to patient and data scarcity, (prospective) studies as generally performed in more common disorders, are often not feasible in rare disorders. To get insights in rare disorders, you need to take a different research approach. In her PhD trajectory, Willemijn performed a meta-analysis of case reports supplemented with the patient files present in the UMCU to create an artificially ‘large’ cohort allowing to zoom in on the early phase of the disease. Doing so, she identified several ophthalmological and neurological differentiating characteristics that help to recognize these patients early, without requiring clinical experience with the disease. Thanks to the bi-annual follow-up of the UMCU Batten disease cohort, we could additionally identify several clinical markers and biomarkers for disease. Particularly, we identified a biomarker that allows to diagnose disease and predict the following disease course in an automated measurement. We hope that, following the insights gained in this research, we have come a significant step further on the way towards treating Batten disease.