Paracelsus Medical University
The PATRE (PATient based phenotyping and evaluation of therapy for Rare Epilepsies) working group at the PMU Salzburg was founded in 2020 by Kirsten Eschermann, Lorenz Kiwull and Prof. Dr. med. Gerhard Kluger. The team also includes PD Dr. med. Celina von Stülpnagel-Steinbeis, Dr. med. Till Hartlieb and Prof. Daniel Weghuber as scientific advisors. The basic idea of PATRE is to collect information about phenotype and therapeutic response directly from patients and their caregivers (e.g. parents). The goal is to use Web 3.0 technology to create patient-based databases on participating diseases and to enable patient participation. PATRE uses a server with REDCap for secure and modern data collection.
SYNGAP1 is PATRE's pilot disease. Since 2017, there has been a collaboration between the team members and SYNGAP Elternhilfe e.V. and the idea for PATRE was developed together with Verena Schmeder as the chair of SYNGAP Elternhilfe e.V.
Role within EURAS
Within the framework of EURAS, an innovative register is currently being developed by the PATRE working group at the PMU Salzburg in cooperation with the OVGU Magdeburg. The PMU Salzburg is home to the SYNGAP1 registry and the OVGU Magdaburg to the CFC syndrome, Costello syndrome and Noonan syndrome registry.