Volker Straub - The Voice of Rare Disease Patients in Europe · Translational Research in Europe...
Transcript of Volker Straub - The Voice of Rare Disease Patients in Europe · Translational Research in Europe...
Translational Research in Europe – Assessment and Treatment of Neuromuscular Diseases
Volker Straub
University of Newcastle upon TyneInstitute of Human Genetics
Contract 036825
Eurordis Workshop Paris, 4 May 2007
anterior horn cell⇒ Spinal muscular atrophiesanterior horn cell⇒ Spinal muscular atrophies
peripheral nerve⇒ hereditary neuropathiesperipheral nerve⇒ hereditary neuropathies
muscle cell⇒ myopathies / muscular dystrophiesmuscle cell⇒ myopathies / muscular dystrophies
neuromuscular junction⇒ myasthenic syndromesneuromuscular junction⇒ myasthenic syndromes
NMD gene tables: > 200 genesNMD gene tables: > 200 genes
Muscular DystrophiesMuscular DystrophiesDMD/BMDDMD/BMD EDMDEDMD
CMDCMD
LGMDLGMD
EB + MDEB + MDFSHDFSHD
OPMDOPMD
Contract 036825
Eurordis Workshop Paris, 4 May 2007
The Life Sciences, Genomics And Biotechnology For Health 4th call:FP6-2005-LifeSciHealth-6
The Life Sciences, Genomics And Biotechnology For Health 4th call:FP6-2005-LifeSciHealth-6
This network of excellence will aim at sharing expertise between basic and clinical academics and industrial partners in order to develop technological and methodological tools with a view to accelerate the elaboration of new therapies for rare neuromuscular diseases.
Important tools include animal models, databases, biobanks, well defined patient cohorts, methods for efficacy assessment.
LSH-2005-2.1.1-7: Rare inherited neuromuscular diseases:FROM MOLECULAR BASIS TO CUTTING EDGE THERAPIES
Contract 036825
Eurordis Workshop Paris, 4 May 2007
Guide for proposersProvisions for implementing Networks of excellenceClassification of the FP 6 InstrumentsMethodological guidance note on the performance indicators within NoE
or
Contract 036825
Eurordis Workshop Paris, 4 May 2007
Contract 036825
Guidance Notes for EvaluatorsRelevance of the NoEPotential ImpactExcellence of the participantsDegree of integration and work planOrganisation and management
Management of the Consortium activities
Activities to Spread Excellence
Jointly executed research activities
Integrating activities
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A02Create the NoEcommunicationinfrastructure
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A01Create the
TREAT-NMDCoordination Centre
Management of the Consortium activities
Activities to Spread Excellence
Jointly executed research activities
Integrating activities
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A02Create the NoEcommunicationinfrastructure
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A03Integrate
State-of-the-art Instrumentation
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A04Create harmonized,durable and relevant
Biobanks and databases
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A01Create the
TREAT-NMDCoordination Centre
Contract 036825
Eurordis Workshop Paris, 4 May 2007
Contract 036825
TREAT-NMD biobanksTREAT-NMD biobanks
Research infrastructure project of TREAT-NMD!
EuroBioBank has been built within the 5th FP
Common platform for rare diseases with strong emphasis on neuromuscular disorders
Biobanks of 8 European countries included
Internet-based catalogue of biomaterials (www.eurobiobank.eu)
Contract 036825
Eurordis Workshop Paris, 4 May 2007
Contract 036825
TREAT-NMD patient registries : UMD databasesTREAT-NMD patient registries : UMD databases
Central infrastructure project of TREAT-NMD!
No costs for software, little investment for hardware
National curators in France, UK, Germany, Italy and Hungary(Eastern Europe) for SMA and DMD
Pan-European curators for „very rare“ MD
Entry point into database: mutation identified!
Management of the Consortium activities
Activities to Spread Excellence
Jointly executed research activities
Integrating activities
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A02Create the NoEcommunicationinfrastructure
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A03Integrate
State-of-the-art Instrumentation
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A04Create harmonized,durable and relevant
Biobanks and databases
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A01Create the
TREAT-NMDCoordination Centre
A01-CreatetheTREAT-
NMD Coordination Centre
(TNCC)
A05Implement theClinical Trials
Coordination Centre
Contract 036825
Eurordis Workshop Paris, 4 May 2007
Centre of Clinical Trials FreiburgCCT - Management
AdministrationSecretarial Services
Public relations / KKS networkQuality assurance
Division IMedical servicesTrial assistanceProject managementConsultingSpecialized Training
Division IIIGerman Register ofGene Transfer StudiesStudy registersIT-CoordinationDrug Regulatory Affairs
Division IIBiometryData managementMonitoring
Division IVClinical Technology ImplementationsAdvanced TrainingMedical writing
Affiliation of the TREAT-NMD personnel:Physician Information scient. Regulatory affairs man.+ clinical division
Management of the Consortium activities
Activities to Spread Excellence
Jointly executed research activities
Integrating activities
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A02Create the NoEcommunicationinfrastructure
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A03Integrate
State-of-the-art Instrumentation
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A04Create harmonized,durable and relevant
Biobanks and databases
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A01Create the
TREAT-NMDCoordination Centre
A01-CreatetheTREAT-
NMD Coordination Centre
(TNCC)
A05Implement theClinical Trials
Coordination Centre
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A06Network in Action:applying integratedtools and methods
A01Create the TREAT-NMD Coordination
Centre(TNCC)
A07Accelerate
pre-clinical phaseof new therapeutic
developments
Contract 036825
Eurordis Workshop Paris, 4 May 2007
Multitude of efficacy readout parametersPathology
Different levels of characterizationBiochemical / Histological / Functional
Different assessment parameterse.g. for histology: hypertrophy, regeneration, inflammation, fibrosis, etc.
Different markers to monitor the same parametere.g. for regeneration: N-CAM immunoreactivity, % centralized nuclei, fiber diameter, ...
Different methods and reagentse.g. for fiber diameter: different staining reagents, different methods of data evaluation, etc.
Management of the Consortium activities
Activities to Spread Excellence
Jointly executed research activities
Integrating activities
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A02Create the NoEcommunicationinfrastructure
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A03Integrate
State-of-the-art Instrumentation
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A04Create harmonized,durable and relevant
Biobanks and databases
A01-CreatetheTREAT-
NMD Coordination Centre
(TNCC)
A05Implement theClinical Trials
Coordination Centre
A01Create the TREAT-NMD Coordination
Centre(TNCC)
A07Accelerate
pre-clinical phaseof new therapeutic
developments
A08Production,
toxicology, saftey and delivery ofnew therapies
A09Optimise and
accelerate efficacymeasurements of
treatmentsA01-
Create the TREAT-NMD Coordination
Centre(TNCC)
A01Create the
TREAT-NMDCoordination Centre
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A06Network in Action:applying integratedtools and methods A10
Harmonize and develop standards
of diagnosisand care
Contract 036825
Eurordis Workshop Paris, 4 May 2007
Harmonise and develop standards for diagnosis and care
Why do we need it?Large variations within Europe for basic standard of careNeed for common basal care in large therapeutic trials
Management of the Consortium activities
Activities to Spread Excellence
Jointly executed research activities
Integrating activities
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A02Create the NoEcommunicationinfrastructure
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A03Integrate
State-of-the-art Instrumentation
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A04Create harmonized,durable and relevant
Biobanks and databases
A01-CreatetheTREAT-
NMD Coordination Centre
(TNCC)
A05Implement theClinical Trials
Coordination Centre
A01Create the TREAT-NMD Coordination
Centre(TNCC)
A07Accelerate
pre-clinical phaseof new therapeutic
developments
A08Production,
toxicology, saftey and delivery ofnew therapies
A09Optimise and
accelerate efficacymeasurements of
treatments
A10Harmonize and
develop standardsof diagnosis
and care
A11Dissemination of
results; Internationalcollaborations
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A01Create the
TREAT-NMDCoordination Centre
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A06Network in Action:applying integratedtools and methods
Contract 036825
Eurordis Workshop Paris, 4 May 2007
Cross linking with EU Networks of Excellence
MYORES
Study of normal and aberrant muscle developmentfunction and repair
CLINIGENE
Safety andefficacy of genetransfer Therapy
EUROGENTEST
Genetic Testing
TREAT-NMD
Acceleration of cutting-edge therapies pathwaysfrom lab to clinic
MYORES
Study of normal and aberrant muscle developmentfunction and repair
CLINIGENE
Safety andefficacy of genetransfer Therapy
EUROGENTEST
Genetic Testing
TREAT-NMD
Acceleration of cutting-edge therapies pathwaysfrom lab to clinic
Management of the Consortium activities
Activities to Spread Excellence
Jointly executed research activities
Integrating activities
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A02Create the NoEcommunicationinfrastructure
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A03Integrate
State-of-the-art Instrumentation
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A04Create harmonized,durable and relevant
Biobanks and databases
A01-CreatetheTREAT-
NMD Coordination Centre
(TNCC)
A05Implement theClinical Trials
Coordination Centre
A01Create the TREAT-NMD Coordination
Centre(TNCC)
A07Accelerate
pre-clinical phaseof new therapeutic
developments
A08Production,
toxicology, saftey and delivery ofnew therapies
A09Optimise and
accelerate efficacymeasurements of
treatments
A10Harmonize and
develop standardsof diagnosis
and care
A11Dissemination of
results; Internationalcollaborations
A12Develop a joint
training & eduationprogramme
A13Technology Transfer
to industry
A14Ethical aspects,
science communicationand dissemination
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A01Create the
TREAT-NMDCoordination Centre
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A06Network in Action:applying integratedtools and methods
Contract 036825
Eurordis Workshop Paris, 4 May 2007
Ethical aspects and science communication
public interest and concern about the impact of science, new technologies and advances in medicine.
GMOs and HESC research have shown that distrust can develop due to a lack of understanding with serious implications for the future knowledge-based society.
Management of the Consortium activities
Activities to Spread Excellence
Jointly executed research activities
Integrating activities
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A02Create the NoEcommunicationinfrastructure
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A03Integrate
State-of-the-art Instrumentation
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A04Create harmonized,durable and relevant
Biobanks and databases
A01-CreatetheTREAT-
NMD Coordination Centre
(TNCC)
A05Implement theClinical Trials
Coordination Centre
A01Create the TREAT-NMD Coordination
Centre(TNCC)
A07Accelerate
pre-clinical phaseof new therapeutic
developments
A08Production,
toxicology, saftey and delivery ofnew therapies
A09Optimise and
accelerate efficacymeasurements of
treatments
A10Harmonize and
develop standardsof diagnosis
and care
A11Dissemination of
results; Internationalcollaborations
A12Develop a joint
training & eduationprogramme
A13Technology Transfer
to industry
A14Ethical aspects,
science communicationand dissemination
A15Gender Action Plan
A16 multilevel network
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A01Create the
TREAT-NMDCoordination Centre
A01-Create the TREAT-NMD Coordination
Centre(TNCC)
A06Network in Action:applying integratedtools and methods
Contract 036825
Eurordis Workshop Paris, 4 May 2007
Contract 036825
draft version of the 4th call in FP6 2005 March Meetings in Newcastle, Nantes, Paris, Amsterdam April-JuneSubmission of the proposal NovemberRequest for ethical review 2006 February Evaluation Summary Report MarchStart of Negotiations with the EC April1st draft of the CPFs and Annex 1 May2nd draft of Annex 1 June3rd draft of Annex 1 Septemberfinal submission of CPFs and DoW OctoberContract signature Decemberlaunch of TREAT-NMD 2007 January
Timetable of the applicationTimetable of the application