Ricerca | Progetti

EXPANSION AND REINFORCEMENT OF A NATIONAL NETWORK FOR THE STUDY OF PEDIATRIC ATAXIAS

In 2009, an innovative Italian network was created gathering centres with a multidisciplinary long-lasting expertise on PA. Long-term research objectives of the network are: 1) To create a registry of pathologies and develop guidelines for diagnosis and care; 2) To optimize large scale genetic testing and identify novel causative genes; 3) To develop low-cost, home-based innovative technologies for quantitative motor assessment and for global rehabilitation of patients, including those living away from specialized centres. Main centers participating to the network include: IRCCS Stella Maris (Pisa), IRCCS Bambino Gesù Pediatric Hospital (Rome), IRCCS Eugenio Medea (Bosisio Parini), IRCCS National Neurologic Institute Carlo Besta (Milan), IRCCS Casimiro Mondino (Pavia), University Sapienza (Rome), University of Messina, Federico II University (Naples), Spedali Civili (Brescia), CNR and Istituto Superiore di Sanità. The network already collaborates with several less-expert centres in Italy (over 700 Italian patients recruited to date), adopting a standardized printed questionnaire for data collection. However, questionnaires are currently centralized, making it difficult to compare clinical features and diagnoses among centres. In turn, this hampers the definition of homogeneous groups of patients for research purposes, as well as the correct assessment of prevalence and natural history, and the sharing of common protocols for diagnosis, management and care, especially for the rarest forms of PA. The project proposes to reinforce and expand the existing network, to create a consolidated Group able to propose and develop guidelines and reccomendations on a national basis. This will also implement the current database for the systematic collection and sharing of clinical data, which will include a specific section for validated PA scales and tests, as well as data related to rehabilitation and pharmacological treatments. The database will be accessible (via username and password) to each clinician joining the network, who will be able to include patients and well as to search the whole database for a given diagnosis or for specific features, and get in touch with the referring clinicians of patients of interest. On the long term, this network has the ambitious goal to significantly implement the diagnosis and management of PA in Italy, to make them more efficient, widely accessible and cost-effective. In this light, the online database and related portal will represent key instruments to the network success.