The patient registry
EURAS establishes a transnational patient network for exchange, support and awareness-raising for neurodevelopmental RASopathies as rare diseases. Patients and their families from around 13 countries are joining the network, which also facilitates the collection of real-world data for neurodevelopmental RASopathies. Syngap Elternhilfe e. V. coordinates the recruitment for the planned PATient-based registry for phenotyping and therapy evaluation in RASopathies (PATRAS). Via this online platform, affected families have the opportunity to play a central role in basic research by providing valuable insights on disease manifestations and treatment efficiency. This helps EURAS researchers to better grasp the various elements at play in the respective neurodevelopmental RASopathy. Patients can contribute to the elaboration of disease models that further advance the discovery of novel treatments. On the data-basis provided by PATRAS, clinicians, bioinformaticians and researchers will identify what is called “disease signatures” to establish more accurate diagnostic procedures, identify effective treatment and provide patients with therapies tailored to their specific needs.
Join the network and help advance research!
PATRAS welcomes CFC, CS, and SYNGAP1 patients, as well as patients with Noonan Syndrome. Patients, families, clinicians and caregivers interested in this registry are invited to pre-register.