Objectives. The Registry of rare diseases of Lombardy has the objectives of providing information for health planning, monitoring and studying the epidemiology of rare diseases. Methods. The Registry collect demographic, public assistance and clinical information. Data are collected by specialists of the Reference Centres of the Rare Diseases Network; at present the implementation of the Registry is web-based using a specific software called "Sistema Malattie Rare". The Coordinating Center is in charge of Registry management which consists in analyzing data and sending "minimum dataset" (data required by the National Registry of rare diseases) to Istituto Superiore di Sanità. Results. On 30 June 2009, the Registry contains 4066 records of diagnosis of rare disease. Most reported rare diseases are those in the category of the endocrine glands, nutrition, metabolism and immune disorders. Twenty-five percent of the patients received one or more medications for the treatment of their rare diseases. Fifteen percent of reported patients live in another Italian region. Conclusions. The Registry of rare diseases of Lombardy is a remarkable resource for the study of epidemiology and health planning for rare diseases. However, in the interest of full expression of its potential will be necessary to optimize the functionality, diffusion and use of the software "Sistema Malattie Rare" in the Reference Centres of the Rare Diseases Network.
|Translated title of the contribution||Registries for rare diseases: Lombardy experience|
|Number of pages||11|
|Journal||Ricerca e Pratica|
|Publication status||Published - Nov 2009|
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