SANT’ANNA school, USL toscana nord oves and lucca authorities sign mou on RARE diseases: rector NUTI: “we are committed to increasing collaborative research and improving care for patients and families”

A Memorandum of Understanding (MoU) was signed on Saturday, December 7, between association “Amici del Cuore”, Lucca city council authority, Azienda USL Toscana nord ovest, Ordine dei Medici Lucca and Sant’Anna School Pisa at the Centro di Sanità Solidale in Lucca. President Raffaele Faillace (“Amici del Cuore” – Lucca), Mayor Alessandro Tambellini, Rector Sabina Nuti, Director Lorenzo Roti (Azienda USL Toscana nord ovest) and President Umberto Quiriconi (Ordine dei Medici Chirurghi e Odontoiatri) have committed to improve the diagnosis, care, and treatment for patients with rare diseases. Through the establishment of a rare disease registry and focusing on research and development of therapies, the partners highlighted how digital technology can accelerate the time of access to treatment for patients and families.

“The purpose of this MoU is to raise awareness of rare diseases and raise the level of care for patients at national and regional levels” – said Raffaele Faillace, the President of the “Amici del Cuore” association. “This agreement will enable us to increasing access to high quality clinical services”.

“This Memorandum can improve care and accelerate research. We aim to facilitate the collaboration of experts and share information for a better coordination of medical, social, and support services to lessen the burden on families” – said Mayor Alessandro Tambellini.

“We are proud to build partnerships which improve integrated services to patients. We will focus on specific service delivery targeted at the needs of patients” – said Rector Sabina Nuti. “This project reflects our commitment to drive research and improve patient outcomes and quality of life. Our country needs to increase collaborative research efforts to enhance scientific understanding and new telecare technology tailored to people’s needs”.

“We can assist families through remote monitoring technologies. Telecare will provide patients a method to self-manage their conditions and to live independently in their houses. Using video, diagnostic images and test technologies, doctors can initiate treatment and track the follow up care when patients are discharged from the hospital”, said Stefano Mazzoleni, a researcher at the Sant’Anna School Biorobotics Institute currently working on the project.

“In many cases, rare diseases are severe, progressive and chronic conditions. We are committed to delivering a range of modern and integrated services as alternatives to our national service delivery models. A regional shared information system has the potential to ensure more effective health and social care to patients”, said Director Lorenzo Roti.

“The Amici del Cuore and Centro di Sanità Solidale associations reaffirmed their commitment to integrating rare disease patients within their programs. Patients will be seen across a number of healthcare settings with GPs and pediatricians having a greater role in the diagnosis of rare diseases and offering support to the families facing desolation and grief associated with life-threatening illness”.

Priorities for action include access to treatment pathways and social care services for patients and their families.

The Amici del Cuore association has launched a new project to support person-centred care at all stages. A multi-professional team under the supervision of Dr. Raffaele Domenici will provide physical rehabilitation, psychological, social and support in the development of healthcare services to help families, children and parents.

The MoU actions include:

• Data collection procedures, specialized reports, registry, database for rare diseases in Lucca province;
• Development of national, regional and local guideline to improve the quality of diagnostics, treatment and access to specialist expertise;
• Access to emergency diagnostic procedures;
• Support to self-manage health conditions and to live independently;
• Appropriate summer activities and social services targeted at special needs families;
• GPs and pediatricians involvement in the development of highly specialist integrated services to ensure they play their important role in encouraging patient treatment pathways;
• Quality improvement to achieve better value for rare disease treatments through the delivery of specialty medications and new drugs;
• Support networks, follow-up and psychological care;
• Volunteer networking and dedicated patient non-profit organizations serving the rare disease patients;
• A new partnership project between Asl, Comune di Lucca, Associazione Amici del Cuore, Fondazione Gabriele Monasterio, Azienda Ospedaliero Universitaria Pisana and Azienda Ospedaliero Universitaria di Careggi on improving the diagnosis of rare diseases;
• AI, robotics and remote monitoring technologies to expand care beyond hospitals to home.