Lead Participant: Newcastle University

Title: Patients' material organisation, circulation and managing of novel patients' fluids collection.

Objectives:

• Improve information on available human biomaterials for biomarker discovery through integration with EuroBioBank and BIO-NMD partner collections.
• Improve the availability, exchange and use of human biomaterials for biomarker research by the BIO-NMD partners.
• Facilitate dialogue and communication on the ethical use of human biomaterials with patients, patient organisations and the lay public.

Lead Participant: University of Ferrara

Title: Genomic biomarker discovery by genome-wide analyses of DNA and RNA.

Objectives:

• To identify genomic biomarkers that correlate with disease in DMD and Col6 myopathies.
• To identify genomic biomarkers that correlate with treatment response in DMD and Col6 myopathies.
• To identify new pathological pathways in DMD and Col6 myopathies.
• To methodologically consolidate identified biomarkers.

Lead Participant: Leiden University Medical Center

Title: Proteomic biomarker discovery by studies on patient cells, muscle tissues and body fluids.

Objectives:

• To develop a protocol and pipeline for exhaustive analysis and identification of proteins in blood using liquid chromatography coupled to an ion trap (LC-MS/MS) and an FTICRMS system.
• To identify muscle proteins differentially expressed between DMD/Col6 patients and healthy controls.
• To derive a comprehensive list of muscle-derived proteins detectable in blood (serum/plasma) and urine of DMD and Col6 patients.

Lead Participant: Leiden University Medical Center

Title: Exploratory biomarker validation in humans.

Objectives:

• To validate genetic modifiers (SNPs/CNVs) identified in WP2 in separate patient cohorts.
• To validate differentially expressed and differentially spliced transcripts identified in WP2.
• To validate protein biomarkers identified in WP3 in larger patient cohorts with dedicated immunoassays.

Lead Participant: University of Padova

Title: Biomarker discovery and validation on animal models.

Objectives:

• To identify pathophysiological biomarkers in animal models for dystrophinopathies and Col6 myopathies.
• To validate potential biomarkers discovered in patients and elucidate molecular pathways underlying the dystrophic defects.

Lead Participant: Institut National de la Sante et de la Recherche Medicale - INSERM

Title: Bioinformatic tools for identifying functional pathways, potential targets and data outflow integration.

Objectives:

• Develop and feed friendly database generated with data from the genomics, transcriptomics and proteomics approaches used in WP2 and 3.
• Adapt MedScan® and Pathway Studio® to biomarker discovery and validation in relation to NMDs.

Lead Participant: University of Rome Tor Vergata

Title: Biomarker regulation and qualification at the EMEA.

Objectives:

• Monitoring the data collection and submission according to EMEA rules and guidelines.
• Contacts with regulatory agencies (calls, meetings, briefings).

Lead Participant: Newcastle University

Title: Social and ethical aspects.

Objectives:

• Setting up explicit mechanisms to deal with the ethical issues raised by the project.
• Disseminating information on project outcomes to the stakeholder public (patients and families) and to the wider general public.
• Providing a forum where the public can feed back to the project partners where appropriate.

Lead Participant: Newcastle University

Title: Exploitation and dissemination.

Objectives:

• Disseminating information on the project to the scientific community.
• Developing online tools that will enable project participants to work collaboratively.
• Enabling interaction with the scientific community via workshops and online forums.

Lead Participant: University of Ferrara

Title: Strategic and operational management.

Objectives:

• Ensure that all budgetary actions are performed correctly and according to the rules and regulations established by the European Commission and the consortium agreement.
• Ensure that the received funds are correctly distributed and accounted for including independent auditing.
• Ensure that the work and tasks are completed on time andwithin the budget and satisfy the high quality requirements.
• Ensure that reporting is performed on a regular basis in the most efficient and pragmatic way, according to EU Commission guidelines.
• Provide all consortium members with all important, relevant and impacting information that can influence the project's outcome.