Daphne Schoenmakers

Short bio

Daphne Schoenmakers, MD PhD student, is a researcher in the groups of professor Nicole Wolf, professor Marjo van der Knaap and professor Carla Hollak. Her PhD focused on improving the clinical and regulatory management of leukodystrophies through international registries and expert consortia. Together with the Amsterdam Leukodystrophy Center, the platform Medicine for Society, the Dutch National Healthcare Institute, and a group of international leukodystrophy experts, she was involved in the establishment of the MLD initiative.  
Abstract

Title: Registries for leukodystrophies: improving trial & regulatory readiness. Progress in genetic diagnosis and orphan drug legislation has opened doors to new therapies in rare neurogenetic diseases including leukodystrophies. Innovative therapies such as gene therapy can improve patients' quality of life but come with academic, regulatory, and financial challenges. Registries can play a pivotal role in generating evidence to tackle these, but their development requires multidisciplinary knowledge and expertise. A framework for rare disease registries was established and key principles include that registries should cover the interests of different stakeholders and be able to serve research, drug development, regulatory/HTA decision-making and care. Data should be rapidly accessible, independent, and trustworthy. Governance should involve multiple stakeholders. In addition, data should be highly descriptive, machine-readable, and accessible through a shared infrastructure and not spread over multiple isolated repositories. Sustainable and independent financing of registries is deemed important but remains challenging because of a lack of widely supported funding models. Two examples of registries for leukodystrophies will be highlighted, the VWM registry and the MLD initiative.