Created thanks to the contribution of some of the most important companies involved in the development of therapies for the disease, it will make available the data of hundreds of DMD patients and will lay the foundations for collecting new data in the future according to homogeneous standards.
The creation of a platform dedicated to Duchenne muscular dystrophy is now underway: promoted by Fondazione Telethon, it will make it possible to organize the natural history data collected in more than fifteen years of clinical studies conducted in Italy in a systematic and consistent manner and according to the most advanced standards. Once fully operational, the platform will make the data of hundreds of patients available to researchers and at the same time lay the foundations for collecting new ones in the future, according to uniform criteria and standards.
The development of the platform will involve several activities, including: an informatic infrastructure for hosting the data; a comprehensive electronic Case Report Form (eCRF); standardized documents like informed consent, training materials, data dictionary, which are well traced and maintained; data coding and sharing in line with General Data Protection Regulation (GDPR); an interactive app to reduce mistake in data entry and management; other supplementary activities to support and maintain the overall platform.
The project will be supported by some of the most important pharmaceutical companies currently involved in the development of therapies for this serious neuromuscular disease, for which, despite their best efforts, there is still no conclusive cure: Dyne Therapeutics Inc., Italfarmaco S.p.A., NS Pharma Inc., Roche S.p.A. (*whose contribution will be entirely dedicated to the development of the IT infrastructure), Santhera Pharmaceuticals (Switzerland) Ltd, Sarepta International Holdings GmbH, and Solid Biosciences Inc.
"We are very proud to announce this project, which confirms that Fondazione Telethon is able to act as a catalyst, on the strength of its experience and reputation," said General Manager Ilaria Villa. Faced with the need for more accurate data in line with current standards, companies have relied on us to build a tool that will be available to everyone in the future and that we hope will speed up the development of new therapies”.
Coordination will be entrusted to Eugenio Mercuri, director of the Child Neuropsychiatry Operational Unit at the Policlinico Agostino Gemelli - Università Cattolica del Sacro Cuore in Rome, recognized as one of the leading experts in the field at international level. The main clinical centers that over the years have taken part in studies involving patients with Duchenne muscular dystrophy, financed by Fondazione Telethon thanks to the joint call with the Italian Union Against Muscular Dystrophy (UILDM), will make the data collected available and contribute to populating the database.
Below is the list of the centers involved and their respective representatives:
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome – Eugenio Mercuri (coordinator)
- Istituto Giannina Gaslini, Genoa - Marina Pedemonte
- Ospedale Pediatrico Bambino Gesù, Rome – Michela Catteruccia
- Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan – Claudia Dosi
- Fondazione Istituto Neurologico Nazionale Casimiro Mondino IRCCS, Pavia – Angela Berardinelli
- University of Turin – Federica Ricci
- University of Padua – Luca Bello
- Azienda Ospedaliera Policlinico Universitario "G. Martino", Messina – Maria Sframeli
- University of Pisa – Gabriele Siciliano
- Fondazione Stella Maris, Calambrone (Pisa) – Roberta Battini
- Istituto delle Scienze Neurologiche, Bologna - Melania Giannotta
- Università degli Studi della Campania Luigi Vanvitelli, Naples – Vincenzo Nigro
- Centro Clinico NeMO, Milan – Valeria Sansone
- Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Milan - Francesca Magri
- Associazione La Nostra Famiglia Eugenio Medea, Bosisio Parini – Eleonora Diella
- Università Vita Salute San Raffaele, Milano - Stefano Previtali
