Rare neuropediatric diseases, a single registry to speed up research
[ad_1]
Many diseases, but a single register, so as to speed up research and access to clinical trials, to give a boost to the search for new therapies by streamlining bureaucracy. This is the ambitious project of the Mariani Foundation, which supports the project for the creation of a single national register for rare neuropediatric pathologies. The launch of the platform – the RENDER Network, presented in recent days in Milan – should take place in the autumn.
Many pathologies, too many registers
Neurological pathologies in childhood represent one of the most significant social and health problems of our times, says Enza Maria Valente, president of the Scientific-Research Committee of the Mariani Foundation and professor of medical genetics at the University of Pavia: “For this reason, since 2021 the Mariani Foundation supports the creation of research networks such as the RENDER Network, an innovative registry for rare neuropediatric diseases”. At the moment, he explains, in Italy there are only 20 registers for neuropediatric pathologies, a reason which in recent years has prompted the Foundation to open a tender to finance the design of new registers: “But from the proposals we have received – continues Valente – we are realized that rare disease registries have many characteristics in common. Creating one for each pathology means multiplying the efforts, especially the bureaucratic and legal ones, which concern, for example, compliance with the regulation for the management of privacy”.
500,000 euros to listen to the needs of patients
by Dario Rubino
The RENDER Network
Hence the idea of creating a single platform capable of accommodating many different pathologies, with numerous advantages: “The systematized collection of prospective data in a register – he continues – represents an invaluable resource for researchers, not only for the advancement of knowledge but also to guarantee access for young patients with rare diseases to innovative therapeutic projects”. For example, thanks to the recent rapid development of RNA technologies, continues Valente, today we are in fact potentially able to develop, even in a relatively short time, personalized therapies that target a single gene or even a single mutation of that gene: “ A tool like the one we are developing would therefore guarantee greater chances for individual patients to be able to participate in new clinical trials and specialized therapeutic pathways”. Not only that, having a single platform available with transparent and shared access rules would also mean reducing management costs and, above all, allowing the inclusion of those patients affected by pathologies so rare that they do not yet have a real name. much less a dedicated register.
Rare diseases, 100,000 patients without a diagnosis in Italy
by Letizia Gabaglio
The actors of the project
Various professionals have participated and are participating in the project, in particular geneticists and neuropsychiatrists from various centers and universities, including the University of Pavia, the Sapienza University of Rome, the University of Verona, the Milan Polyclinic: “We have all united the forces with the aim of developing modular cards that can be suitable for the insertion of different pathologies. Furthermore, we are collaborating with a team of bio-engineers from the University of Pavia, the team of Professor Riccardo Bellazzi, who has many years of experience in the development of biomedical platforms to support the collection of clinical data, and who supported us not only in the development of the platform itself, but also of its possible future evolutions. In fact, we would like to make it interfaceable with other existing networks and with other projects: the possibilities are really many”.
[ad_2]
Source link
