G.P.252 : Beta-sarcoglycanopathy: Any longer an “orphan― disease?

The patient registries belong to the core activities which can help us in planning of the effective health care, assessing standards of diagnosis and care, and answer the questions concerning on epidemiologic data. Besides of the local hospital-based databases and registries we can find in Czech Republic four national registries of hereditary neuromuscular disorders associated under unique name: ReaDy (registry of muscular dystrophy). Four registries are currently running: Duchenne/Becker muscular dystrophy (DMD/BMD), spinal muscular atrophy (SMA), myotonic disorders (MD), and facioscapulohumeral muscular dystrophy (FSHD). Each registry is independent and has its own curator. The registries are under the supervision of Czech neuromuscular society. The technology, the data collection, the storage, the backup, and analyses 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. 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. Since 2011 to the March 2014 796 Czech patients were collected: 370 DM, 277 DMD/BMD, 89 FSHD, and 60 SMA. The majority (76%) of all records are from two centers (Prague and Brno). The average annual increase during last three years is 96 patients. The biggest acquisition reveal patients with myotonic disorders (about 45 per year), the smallest growth has the registry FSHD with approx. 11 patients per annum.