E-Health and Innovation to overcome barriers in neuromuscular diseases

Main Author – Sabrina Sacconi

Sabrina Sacconi

Sabrina SACCONI is Professor of Neurology at Nice University Hospital (France), recognized as French Reference Center for rare Diseases and part of the European Rare Disease Network on Neuromuscular diseases.

Pr. SACCONI is Head of the department « Peripheral Nervous System and Muscle ». She is also coordinating a basic research team at IRCAN Institute of Research on Cancer and Aging and working on the suppling of several databases and biobank on rare neuromuscular diseases.

The main research topic of Prof. Sacconi is the development of new therapeutic strategies on neuromuscular diseases based on the understanding the role of genetic, epigenetic, endocrine and immune system deregulation in the progression of these diseases.

This poster was presented as part of the EURO-NMD 1st Annual Meeting - Freiburg, Germany in November, 2017.

Contact Sabrina Sacconi about this poster at sacconi.s@chu-nice.fr.

Additional authors

A. Puma, L. Villa, M.H Soriani, V. Dhetz, V. Guy, F. Manzano, J. Garcia, M. Gros, C. Desnuelle & S. Sacconi from the CHU de Nice

Pr DESNUELLE Claude, University Hospital of Nice (CHUN)
Pr PAQUIS-FLUCKINGER Veronique,University Hospital of Nice (CHUN)

The HCP of Nice University Hospital is committed in the management and care of infantile and adult patients affected by neuromuscular, mitochondrial and motoneuron diseases.
Our HCP is located in a cross-border territory characterized by an extreme variability in term of accessibility to health providers and social structures. Moreover, the population of this region has the higher median age of all Europe. Consequently, NMD diseases are frequently worsened by age-related comorbidities complicating the diagnosis and care of these patients as well as the costs.

To try to overcome these issues, we are focused in developing a strong politic introducing innovation in diagnosis, daily care, long-term follow-up and translational research in NM Diseases.

Several projects are currently ongoing:
1) NMD-care is an e-Health platform for diagnosis, medical and social care of NMD patients from isolated territories and/or cross border. This platform will connect our hospital with other structures in close proximity to where the patients leave. Thought this platform we will develop new outcomes measures based on connected objects and coaching programs.
2) The Living NMD hospital (CENTA) allows to study and evaluate new technologies to improve patient’s autonomy during their stay in the hospital (ex. automated rooms), but also to test these solutions for home care, and a showroom available for public, academic and private partners in order to expose their prototypes and have a direct feedback from patients and health care providers.
3) Other innovative projects are ongoing based on visual recognition devices, brain computer interfaces and deep learning applied to biological systems in collaboration with INRIA and national and international partners.
We aim to participate to ERN-NMD dynamic and share our experience in order to contribute in spreading the best practices in healthcare for patients with rare Neuromuscular Diseases and stimulating research and innovation.

The ERNs are co-funded by the
European Union (Health Programme and CEF)

EU Commission

“EURO-NMD is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the European Union (Health Programme and CEF).
For more information about the ERNs and the EU health strategy,
please visit ec.europa.eu/health/ern