This dataset supports research to the natural history of Vanishing White Matter (VWM), and comprises longitudinal survey data from >460 genetically and MRI-confirmed, untreated participants across the world.

Data collection began in 2004 on paper. In 2016, it transitioned to electronic entry in Access, and since 2019, data have been collected using Castor EDC.

The database includes validated scales, such as the Health Utility Index (HUI), Guy’s Neurological Disability Scale (GNDS), Gross Motor Function Classification System – Extended & Revised (GMFCS-E&R), Communication Function Classification System (CFCS), and Manual Ability Classification System (MACS), alongside our self-developed, unvalidated VWM questionnaire covering a broad range of topics. The Gross Motor Function Classification in Metachromatic Leucodystrophy (GMFC-MLD), Expressive Language Function Classification in Metachromatic Leucodystrophy (ELFC-MLD), Eating and Drinking Ability Classification System (EDACS), EuroQol-5 Dimension (EQ5D) 5 level (-5L) and child/adolescent (-Y) versions were incorporated later.

While most participants reside outside the Netherlands and have never attended the hospital, a subset underwent clinical visits during which the Modified Rankin Scale (MRS) and Vineland-3 were additionally administered.