S.P.34 ReaDY: The Czech national registry of myotonic disorders

Abstract

Abstract The patient registries are the key activities which can help us in planning of the effective health care, assessing standards of diagnosis and care, and answer the questions concerning of the prevalence of neuromuscular disorders. Preliminary survey in the nine neuromuscular centers and four genetic laboratories in Czech Republic (CR) revealed about 400 patients with myotonic disorders. The majority seems to be the patients with myotonic dystrophy type 2 (MD2), but the exact figures have not been available up to date. Therefore Czech neuromuscular society decided to establish the national myotonic registry which can answer these questions. The technological aspect of the project, the data collection, storage and backup and their analysis are provided by the Institute of Biostatistics and Analyses, Masaryk University, Brno, CR. On-line data collection is based on a TRIALDB system developed on Yale University, Connecticut, USA, which is widely used for this purpose. So it is not necessary to install any additional computer software. The database can be accessed only by authorized persons using their login and password. For each patient is generated a unique ID; all data transfer is encrypted and the system is designed to prevent their unauthorized use during data transfer. Laws and regulations in CR require having an informed consent from all patients whose data are used in the registry. All claims for personal data protection were met. Data are stored on the central server on Masaryk University in Brno in Oracle 9i database. The registry was launched in the June 2011 and up to February 2012 contains 235 records from eight Czech neuromuscular centers. The database include 76 patients with MD1, 116 patients with MD2, 25 peoples with ClCN1 mutations, and 14 persons with SCN4A mutations. The majority (85%) of records are from two centers (Prague and Brno), five centers have completed less than 10 records.