DSEF finds it very important to collect data in a proper, easy and ethical way, so that scientists and other stakeholders can learn from it, work on better understanding and better treatments. Currently, we are focusing on two instruments in particular: RESIDRAS, which is physician-based, and WACEAN, which is patient-based.
The Syndrome caused by the mutation of genes SCN1A and PCDH19 includes a spectrum of conditions with a variable degree of severity, in which patients show all or only some of the clinical characteristics as described in Dravet Syndrome. The Register is an essential instrument used to improve knowledge of the disease through the collection and systematic registration, with a constant flow of clinical data of patients affected by the Dravet Syndrome relating to the mutations of genes SCN1A and PCDH19.
The Italian registry is in an advanced phase including 23 expertise centers, while other 5 centers are attending to complete the accreditation phase. At present, RESIDRAS includes 276 registered patients (174 Dravet Syndrome, 71 other syndrome with mutation/deletion SCN1A gene, 31 PCDH19). The online software platform has been widely tested for feasibility and reliability of data input and we are now planning to extend the RESIDRAS to other countries.
The idea of creating this platform arose from the need to create a patient registry. With the intention that this tool also has tangible value for the patient and his family, the mere registration was extended with features that allow monitoring and complete management of the disease from the same site, while medical information is provided relevant and useful. Most data to the platform are introduced by patients or caregivers, in a continuous manner in time, so that the information is constantly updated.
This platform is initially created for patients diagnosed with Dravet Syndrome and it is designed to have information on the number of people affected in each country, to help in the disease research, and also facilitate the search for candidates for testing new clinical therapies. In the case of a trial in the country concerned made, the registration may facilitate identification of the most appropriate patients to participate in, if they so wished.
It is important to note that the owner of the data entered on this platform is the patient or person in charge. In any case, you can voluntarily share information with other caregivers, doctors, or other third parties, and you may revoke permission at any time.