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


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


Guide for proposersProvisions for implementing Networks of excellenceClassification of the FP 6 InstrumentsMethodological guidance note on the performance indicators within NoE

or

Contract 036825


Contract 036825

Guidance Notes for EvaluatorsRelevance of the NoEPotential ImpactExcellence of the participantsDegree of integration and work planOrganisation and management

Contract 036825


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


Centre(TNCC)

A01Create the

TREAT-NMDCoordination Centre

Contract 036825


www.treat-nmd.eu






Centre(TNCC)



Centre(TNCC)

A03Integrate

State-of-the-art Instrumentation


Centre(TNCC)

A04Create harmonized,durable and relevant

Biobanks and databases


Centre(TNCC)

A01Create the


Contract 036825


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


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!






Centre(TNCC)



Centre(TNCC)

A03Integrate



Centre(TNCC)




Centre(TNCC)

A01Create the


A01-CreatetheTREAT-

NMD Coordination Centre

(TNCC)

A05Implement theClinical Trials

Coordination Centre

Contract 036825


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






Centre(TNCC)



Centre(TNCC)

A03Integrate



Centre(TNCC)




Centre(TNCC)

A01Create the


A01-CreatetheTREAT-


(TNCC)


Coordination Centre


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


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.






Centre(TNCC)



Centre(TNCC)

A03Integrate



Centre(TNCC)



A01-CreatetheTREAT-


(TNCC)


Coordination Centre


Centre(TNCC)

A07Accelerate


developments

A08Production,

toxicology, saftey and delivery ofnew therapies

A09Optimise and

accelerate efficacymeasurements of

treatmentsA01-

Create the TREAT-NMD Coordination

Centre(TNCC)

A01Create the



Centre(TNCC)

A06Network in Action:applying integratedtools and methods A10

Harmonize and develop standards

of diagnosisand care

Contract 036825


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






Centre(TNCC)



Centre(TNCC)

A03Integrate



Centre(TNCC)



A01-CreatetheTREAT-


(TNCC)


Coordination Centre


Centre(TNCC)

A07Accelerate


developments

A08Production,


A09Optimise and


treatments

A10Harmonize and

develop standardsof diagnosis

and care

A11Dissemination of

results; Internationalcollaborations


Centre(TNCC)

A01Create the



Centre(TNCC)


Contract 036825


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






Centre(TNCC)



Centre(TNCC)

A03Integrate



Centre(TNCC)



A01-CreatetheTREAT-


(TNCC)


Coordination Centre


Centre(TNCC)

A07Accelerate


developments

A08Production,


A09Optimise and


treatments

A10Harmonize and


and care

A11Dissemination of


A12Develop a joint

training & eduationprogramme

A13Technology Transfer

to industry

A14Ethical aspects,

science communicationand dissemination


Centre(TNCC)

A01Create the



Centre(TNCC)


Contract 036825


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.






Centre(TNCC)



Centre(TNCC)

A03Integrate



Centre(TNCC)



A01-CreatetheTREAT-


(TNCC)


Coordination Centre


Centre(TNCC)

A07Accelerate


developments

A08Production,


A09Optimise and


treatments

A10Harmonize and


and care

A11Dissemination of


A12Develop a joint

training & eduationprogramme

A13Technology Transfer

to industry

A14Ethical aspects,

science communicationand dissemination

A15Gender Action Plan

A16 multilevel network


Centre(TNCC)

A01Create the



Centre(TNCC)


Contract 036825


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

Volker Straub - The Voice of Rare Disease Patients in Europe · Translational Research in Europe...

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