Making the connection Improving the clinical and regulatory management of leukodystrophies

Leukodystrophies comprise a group of rare neurogenetic disorders primarily affecting the white matter of the nervous system. Patients typically suffer from severe and progressive neurological disabilities. Advancements in diagnostics and pathophysiological understanding pave the way for therapy development. At the start of this PhD trajectory, the management perspective of metachromatic leukodystrophy (MLD) and vanishing white matter (VWM) was about to change: imminent approval of gene therapy for MLD and start of the first therapeutic trial in VWM. In this thesis, the role of international collaborations and patient registries is illustrated. We initiated the MLD initiative, a collaborative network and registry for MLD supported by a grant from the Dutch Healthcare Institute, and used the VWM consortium and VWM registry to advance therapeutic development and disease management in VWM.