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Identifying and validating pre-clinical biomarkers for diagnostics and therapeutics of Neuromuscular Disorders

Objective

The rapidly expanding knowledge of NMDs genetic diagnosis, pathogenesis and therapeutic possibilities has provided new targets for disease characterisation, early diagnosis, drug discovery and development as well as has raised many questions about how to translate this knowledge into clinical practice as (initial) clinical trials typically run for such a short time that clinical improvement can hardly be expected within that time frame. This militates for the discovery of surrogate endpoints for establishing the efficacy of clinical trials. The concept of biomarkers represents measurable bio-parameters able to flank the process of diagnosis, functional characterisation and therapy in NMDs.
OMIC sciences (genomic, transcriptomics, proteomics) offer opportunities to identify biomarkers for finely defining and tuning the NMDs bases. This approach can make available non-invasive biomarkers, to be used for monitoring disease progression, prognosis and drugs response, therefore optimising the choice of appropriate and often personalised therapies. Validated biomarkers will increase therapy efficiency (meaning optimal dose of drug to get responders) and efficacy (responders vs non responders for example if we will identify genomic biomarkers linked to the lack of any therapeutic effect). In this case we could address a truly efficacious therapy (avoiding inefficacious treatment due to unfavourable genomic contexts). The new genomic and proteomic biomarkers discovered within BIO-NMD will be validated both in animal models and in human samples, before entering into a qualification process at the EMEA. The qualified biomarkers resulting from the BIO-NMD project will be ready for ongoing and further clinical trials for the patient benefit. This will increase the therapy efficacy and efficiency and also reduce adverse effects, with impact on patients’ quality of life with also economical relevance.
The BIO-NMD consortium is led by the University of Ferrara, an internationally recognised university in the field of genomics of hereditary neuromuscular disorders. In addition the consortium is composed of 7 leading European academic partners bringing their expertise in all OMIC sciences as well as in bio-informatics and patient sample collection, 1 SME providing its skills in bio-informatics and 1 global company specialised in the development of patient samples screening.

Field of science

  • /natural sciences/biological sciences/biochemistry/biomolecules/proteins/proteomics

Call for proposal

FP7-HEALTH-2009-single-stage
See other projects for this call

Funding Scheme

CP-FP - Small or medium-scale focused research project

Coordinator

UNIVERSITA DEGLI STUDI DI FERRARA
Address
Via Ariosto 35
44121 Ferrara
Italy
Activity type
Higher or Secondary Education Establishments
EU contribution
€ 947 800
Administrative Contact
Francesco Di Virgilio (Prof.)

Participants (14)

ACADEMISCH ZIEKENHUIS LEIDEN
Netherlands
EU contribution
€ 868 500
Address
Albinusdreef 2
2333 ZA Leiden
Activity type
Higher or Secondary Education Establishments
Administrative Contact
R. Esveld (Mr.)
UNIVERSITY OF NEWCASTLE UPON TYNE
United Kingdom
EU contribution
€ 454 255
Address
Kings Gate
NE1 7RU Newcastle Upon Tyne
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Aleona Blinova (Ms.)
UNIVERSITA DEGLI STUDI DI PADOVA
Italy
EU contribution
€ 466 118
Address
Via 8 Febbraio 2
35122 Padova
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Maria Luisa Frison (Dr.)
UCL Elizabeth Garrett Anderson Institute for Women’s Health
United Kingdom
EU contribution
€ 720 650
Address
Gower Street
WC1E 6BT London
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Greta Borg-Carbott (Ms.)
UNIVERSITA DEGLI STUDI DI ROMA TOR VERGATA
Italy
EU contribution
€ 140 000
Address
Via Cracovia 50
00133 Roma
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Sergio Amadori (Prof.)
INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE
France
EU contribution
€ 398 360
Address
Rue De Tolbiac 101
75654 Paris
Activity type
Research Organisations
Administrative Contact
Vincent Boyer (Mr.)
UNIVERSITA DEGLI STUDI DI MILANO
Italy
EU contribution
€ 274 004
Address
Via Festa Del Perdono 7
20122 Milano
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Daniela Pozzi (Ms.)
KUNGLIGA TEKNISKA HOEGSKOLAN
Sweden
EU contribution
€ 304 576
Address
Brinellvagen 8
100 44 Stockholm
Activity type
Higher or Secondary Education Establishments
Administrative Contact
åke Eriksson (Mr.)
Ariadne Genomics Inc
United States
EU contribution
€ 435 063
Address
9430 Key West Ave, Suite 113
20850 Rockville
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Irina Koshelkova (Ms.)
LIFE TECHNOLOGIES GmbH
Germany
EU contribution
€ 317 030
Address
Frankfurter Strasse 129 B
64293 Darmstadt
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Daniel Balsiger (Mr.)
NOVAMEN SAS
France
EU contribution
€ 162 400
Address
Rue De La République 69
69002 Lyon
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Vincent Grosbois (Mr.)
UNIVERSITE D'AIX MARSEILLE
France
EU contribution
€ 75 600
Address
Boulevard Charles Livon 58
13284 Marseille
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Céline Damon (Ms.)
ARIADNE DIAGNOSTICS LLC
United States
Address
Key West Ave 9430 Suite 115
20850 Rockville
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Elena Schwartz (Mrs.)
STEINBEIS GMBH & CO. KG FUER TECHNOLOGIETRANSFER
Germany
EU contribution
€ 70 000
Address
Willi Bleicher Strasse 19
70174 Stuttgart
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Roland Eils (Prof.)