The Vanishing White Matter registry: a unique source of natural history data
Postema, M. C.; van Voorst, R. J.; Hamilton, E. M. C.; Schoenmakers, D. H.; Stellingwerff, M. D.; Steenweg, M. E.; Verbeek, R. J.; van der Knaap, M. S.
Show abstract
The Vanishing White Matter (VWM) Registry is a single-center database containing longitudinal survey data from >470 untreated patients with DNA- and MRI-confirmed VWM. VWM is a rare genetic disorder of the brain's white matter with an estimated live birth incidence of 1 per 100,000 and prevalence of 1.3 per 1,000,000 people in the Netherlands. The Registry represents a remarkably extensive collection of systematically gathered information on this disease, enabling crucial research into the natural history of VWM and providing a valuable resource for control arms in clinical trials. Data, initially collected on paper from 2004, have been maintained electronically since 2018, and include validated scales alongside a disease-specific customized questionnaire covering clinical, functional, and psychosocial domains. Survey packages, available in eight languages, are sent one to four times a year, depending on patient age. Built-in validity checks and review by pediatric and adult neurologists ensure data quality. The dataset is continuously updated with questionnaires expanding its scope, and structured for analysis and reuse in research on VWM.
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