EUROPEAN PARTNERSHIP

The BRIDGE-PDE project aims to transfer and implement a validated newborn screening method for pyridoxine-dependent epilepsy (PDE) in new institutions, enabling early and pre-symptomatic diagnosis of this rare genetic disorder. It focuses on building local capacity through training and knowledge transfer, while integrating a biomarker-based, personalised medicine approach into routine public health screening. Ultimately, the project seeks to improve patient outcomes, reduce healthcare inequalities, and support the wider adoption of standardised, precision-based screening practices across healthcare systems. In addition, the project aims to generate robust local evidence and harmonised protocols that can support future policy decisions on including PDE in national newborn screening programmes. By demonstrating feasibility and scalability, it also seeks to establish a sustainable model that can be extended to other rare diseases and healthcare settings.