JOINT RESEARCH PROJECT OF THREE EUROPEAN ASSOCIATIONS
Guided by the slogan #RareButTogetherLessRare, three European associations (Together for PCDH19 Research – ets [Italy] PCDH19 Suisse [Switzerland] – Asociación Epilepsia rosa PCDH19 [Spain]) have long pursued a series of shared objectives, including fundraising for the joint financing of scientific projects.
In 2026, the contribution of the three associations enabled the funding of a research project at the Bambino Gesù Children’s Hospital in Rome – Neurology, Epilepsy, and Movement Disorders Unit. The project aimed at updating the parameters of the RESIDRAS registry and expanding the number of enrolled patients.
The project, entitled “Collection and analysis of data on epilepsy due to PCDH19 mutation in the RESIDRAS registry,” is a fundamental tool for studying rare diseases, allowing for the systematic collection of clinical, genetic, and epidemiological data useful for research and healthcare planning.
The RESIDRAS National Registry, promoted by the Dravet Italia Onlus Association, fits into this context. It collects both prospective and retrospective data on patients with epilepsy caused by mutations in the SCN1A and PCDH19 genes.
The information collected includes demographic data, details regarding the onset and progression of epileptic seizures, genetic variants, pharmacological and non-pharmacological treatments, cognitive and behavioral comorbidities, long-term outcomes, and quality of life parameters.
The European PLATFORM-RESIDRAS registry aims to create a necessary database, facilitate diagnosis, improve information on therapeutic strategies, and promote research.
– For information on accredited clinical centers: https://www.dravet-registry.com/platform-residras-centresinvolved
The video on the registry is available: https://youtu.be/-VipLefToIw
The project will achieve highly significant scientific objectives:
– definition of the natural history of the disease;
– genotype-phenotype correlation;
– evaluation of the efficacy and safety of pharmacological and non-pharmacological treatments used in clinical practice;
– evaluation of the disease’s impact on the quality of life of patients and families;
– creation of national and international scientific collaborations.
Furthermore, an updated registry is the necessary basis for any clinical trial.
