BIO-NMD Project Summary
Rapidly expanding knowledge of neuromuscular diseases (NMDs) has provided new targets for disease characterisation, early diagnosis and drug development whilst presenting many challenges about how to translate this knowledge into clinical practice. This is all the more challenging as initial clinical trials typically run for such a short time that it is difficult for improvement to be effectively measured. Alongside this, NMDs are chronic degenerative diseases, often associated with severe muscle weakness making the characterisation of clinical parameters challenging.
OMIC sciences (genomic, transcriptomic, proteomic) will be used to identify non-invasive biomarkers which offer an invaluable tool for monitoring disease progression, prognosis and response to drug treatment during clinical trials. Biomarkers represent excellent substitutes for clinical endpoints because they can predict a clinical benefit more quickly than other measures and in a less invasive way than muscle biopsies.
The new genomic and proteomic biomarkers will be validated in both animal models and human samples before the qualification process at the EMEA.
Validated biomarkers will increase therapy efficiency (optimal drug dose to achieve responders) and efficacy (for example by identifying biomarkers linked to a lack of therapeutic effect).
The qualified biomarkers will be ready for ongoing and further clinical trials.
The BIO-NMD consortium is led by the University of Ferrara, internationally recognised in the field of the genomics of NMDs. In addition there are 7 leading European academic partners with expertise in OMIC sciences, bioinformatics and patient sample collection plus 2 industry partners.
Alessandra Ferlini, University of Ferrara (UNIFE), Italy
Peter Bram’t Hoen, Leiden University Medical Centre (LUMC), The Netherlands
Volker Straub, University of Newcastle upon Tyne (UNEW), UK
Paolo Bonaldo, University of Padova (UNIPD), Italy
Francesco Muntoni, Inst. of Child Health, University College London (UCL), UK
Giuseppe Novelli, Tor Vergata University of Rome (UNIROMA), Italy
Christophe Béroud, National Health and Medical Research Institute (INSERM), France
Cecilia Gelfi, University of Milan (UNIMI), Italy
Mathias Uhlen, Royal Institute of Technology (KTH), Stockholm, Sweden
Nikolai Daraselia, Ariadne Genomics Inc. (ARIADNE), USA
Simone Guenther, Applied Biosystems (AB), Germany
Dr Loic Courtot, ACIES/P2R (P2R), France