Rare diseases (RDs) are life-threatening or chronically debilitating diseases with a prevalence lower than 5 cases among 10,000. For these conditions there is a lack of scientific information, research, diagnosis, treatment and expert availability. In 2001 the Italian Network for RDs was set up in order to obtain epidemiological information on these diseases. Presidia specifically identified by the Regions for diagnosis/treatment and by the Regional and National Registries are part of the national Network. Some RDs Registries were also created at the regional level. The Tuscany Registry for Rare Diseases (RTMR) is a network of presidia identified by the regional administration. The single presidium refers to a coordination centre for each group of RDs. The "G. Monasterio" Foundation for Medical Research and Public Health, formerly Institute of Clinical Physiology of the CNR, in charge of the Registry management, has produced a protocol, a questionnaire and a software allowing electronic registration of RD cases treated in Tuscany health centres via the Internet. Additionally, the local Register uploads local cases into the National Registry for RDs, coordinated by the Istituto Superiore di Sanità (ISS). The registration questionnaire is divided in several sections and seeks information on patient, disease, diagnosis, tests performed for diagnosis, besides health condition and treatment. Cases are patients, dead or alive, diagnosed and followed by the Tuscan Presidia of the Regional Health System, including those residing outside the Region, properly diagnosed with one of the RDs included in the 279/2001 Ministerial Decree's list. To ensure privacy, data can only be accessed using a login username and password assigned to each user. Further information is available on the Tuscan Registry for Rare Diseases website: www.rtmr.it
Il Registro Regionale Malattie Rare della Toscana
Bianchi F;Pierini A;Rial M;
2009
Abstract
Rare diseases (RDs) are life-threatening or chronically debilitating diseases with a prevalence lower than 5 cases among 10,000. For these conditions there is a lack of scientific information, research, diagnosis, treatment and expert availability. In 2001 the Italian Network for RDs was set up in order to obtain epidemiological information on these diseases. Presidia specifically identified by the Regions for diagnosis/treatment and by the Regional and National Registries are part of the national Network. Some RDs Registries were also created at the regional level. The Tuscany Registry for Rare Diseases (RTMR) is a network of presidia identified by the regional administration. The single presidium refers to a coordination centre for each group of RDs. The "G. Monasterio" Foundation for Medical Research and Public Health, formerly Institute of Clinical Physiology of the CNR, in charge of the Registry management, has produced a protocol, a questionnaire and a software allowing electronic registration of RD cases treated in Tuscany health centres via the Internet. Additionally, the local Register uploads local cases into the National Registry for RDs, coordinated by the Istituto Superiore di Sanità (ISS). The registration questionnaire is divided in several sections and seeks information on patient, disease, diagnosis, tests performed for diagnosis, besides health condition and treatment. Cases are patients, dead or alive, diagnosed and followed by the Tuscan Presidia of the Regional Health System, including those residing outside the Region, properly diagnosed with one of the RDs included in the 279/2001 Ministerial Decree's list. To ensure privacy, data can only be accessed using a login username and password assigned to each user. Further information is available on the Tuscan Registry for Rare Diseases website: www.rtmr.itI documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
