Progress report



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COST

Domain Committee Biomedicine and Molecular Biosciences


COST Action BM1207

Start Date 03-04-2013
Networking towards clinical application of antisense-mediated exon skipping
MONITORING

PROGRESS REPORT
Reporting Period: from April 2013-April 2014

This Report is presented to the relevant Domain Committee.

It contains three parts:
I. Management Report prepared by the Grant Holder

II. Scientific Report prepared by the Chair of the Management Committee of the Action



III. Previous versions of the Scientific Report; i.e., part II of past reporting periods
The report is a “cumulative” report, i.e. it is updated annually and covers the entire period of the Action.
Confidentiality: the documents will be made available to the public via the COST Action web page except for chapter II.D. Self evaluation.
B
Executive summary (max.250 words):

This COST Action aims to advance the development of antisense-mediated exon skipping for rare diseases, using Duchenne muscular dystrophy for which this approach is currently assessed in phase 3 clinical trials as a prototype. Several challenges hamper its development to wide clinical application: 1) There is no standardized protocol for important biological outcome measures, such as dystrophin restoration. 2) The approach is mutation specific; development for patient subgroups is challenging as most mutations are rare. 3) Fragmentation: several European groups work on preclinical optimization. 4) There is therapeutic misconception amongst patients and unrealistic expectations.



In the first year this COST Action has started to address these issues by comparing and evaluating different dystrophin quantification methods, the results of which have been discussed at a biochemical outcome measure working group meeting. A meeting to discuss the EMA draft guidelines for DMD clinical trials with key stakeholders (academics, industry, patient representatives and regulatory representatives) was organized jointly with TREAT-NMD and patient advocacy group. A meeting to discuss unique challenges of personalized medicine approaches for rare diseases has been planned for May involving core members of the regulatory models working group. In order to jointly overcome common hurdles, academics (researchers and clinicians) and Industry representatives working in the exon skipping field participated in 3 workshops, focusing on challenges of delivery of exon skipping compounds, delivery of exon skipping compounds to brain and on chemistry and toxicology. Six early stage researchers did an STSM and our website is operational (www.exonskipping.eu) and includes STSM reports.
ased on the monitoring results, the COST Office will decide on the following year’s budget allocation.

I. Management Report prepared by the Grant Holder





I.A. COST Action Fact Sheet


  • COST Action BM 1207

  • Domain Biomedicine and Molecular Biosciences (BMBS)




  • Action details:

CSO Approval: 21-11-2013

End date: 02-04-2017

Entry into force:03-04-2013

Extension: not applicable




  • Objectives

This COST Action aims to advance the development of antisense-mediated exon skipping for rare diseases, focusing on Duchenne muscular dystrophy for which this approach is currently assessed in phase 3 clinical trials. Several challenges hamper its development to wide clinical application: 1) There is no standardized protocol for important biological outcome measures, such as dystrophin restoration. 2) The approach is mutation specific; development for patient subgroups is challenging as most mutations are rare. 3) Fragmentation: several European groups work on preclinical optimization. 4) There is therapeutic misconception amongst patients and unrealistic expectations. This COST Action will address the described issues through 1) meetings and training to standardize outcome measures, 2) meetings with regulatory authorities to discuss alternatives to develop this approach for small patients groups, 3) networking workshops where unpublished data are shared confidentially between Parties to foster synergistic work and avoid duplication, 4) training of young scientists in unbiased and clear communication to patients. Networking is crucial for research in the orphan disease field and this model is applicable to other rare diseases for which exon skipping is currently in preclinical development. Groups involved are anticipated to join the Action when their research moves towards the clinical trial phase.


  • Parties: list of countries and date of acceptance




Austria (date)

Greece (date)

Poland (date)

Belgium 29-05-2013

Hungary (date)

Portugal 16-01-2014

Bulgaria (date)

Iceland (date)

Romania (date)

Croatia (date)

Ireland (date)

Serbia (date)

Cyprus (date)

Israel 13-01-2013

Slovakia (date)

Czech Rep. (date)

Italy 27-02-2013

Slovenia (date)

Denmark 22-10-2013

Latvia (date)

Spain 06-02-2013

Estonia (date)

Lithuania (date)

Sweden 20-03-2013

Finland (date)

Luxembourg (date)

Switzerland (date)

FYR of Macedonia (date)

Malta 16-01-2014

Turkey (date)

France 26-12-2012

Netherlands 19-12-2012

United Kingdom 06-12-2012

Germany 29-01-2013

Norway 08-01-2013







  • Intentions to accept:

Colleagues from Switserland are in the process of applying.

  • Other participants:






Chair:

Dr Annemieke Aartsma-Rus Leiden University Medical Center
Albinusdreef 2
2333 ZA Leiden
Netherlands

Tel. +31628495069



a.m.rus@lumc.nl

DC Rapporteur:

Dr Sebastiaan Winkler

University of Nottingham School of Pharmacy, Centre for Biomolecular Sciences, University Park
NG7 2RD Nottingham
United Kingdom

Tel. +441158468457


sebastiaan.winkler@nottingham.ac.uk

Science Officer:

Dr Inga Dadeshidze



inga.dadeshidze@cost.eu


Administrative Officer:

Ms Gabriela Cristea



gabriela.cristea@cost.eu



Action Web site: http://www.exonskipping.eu

  • Grant Holder Representative Dr Annemieke Aartsma-Rus




  • Working Groups (list of WGs and names and affiliations of participants)


Working group 1 (biochemical outcome measures)

Prof Francesco Muntoni (University College London, UK)

Prof Alessandra Ferlini (University of Ferrara, Italy)
Dr Rita Baressi (Newcastle University, UK)

Dr Gisele Bonne (Institute de Myologie, France)

Dr Steve Laval (Newcastle University, UK)

Dr Afrodite Lourbakos (Prosensa Therapeutics, the Netherlands)

Dr Jennifer Morgan (University College London, UK)

Dr Silvia Torelli (University College London, UK)

Dr Maaike van Putten (Leiden University Medical Center, the Netherlands)

Prof Thomas Voit (Institute de Myologie, France)

Dr Karen Anthony (University College London, UK)

Dr Giles Campion (Prosensa Therapeutics, the Netherlands)

Prof Volker Straub (Newcastle University, UK)

Dr Virginia Arechevala-Gomeza (University of Bilbao, Spain)


Working group 2 (regulatory models)

Dr Annemieke Aartsma-Rus (Leiden University Medical Center, the Netherlands)

Dr Nathalie Goemans (Leuven University, Belgium)
Dr Pavel Balabanov (European Medicine Agency, UK)

Dr Giles Campion (Prosensa Therapeutics, the Netherlands)

Dr Elizabeth Vroom (Duchenne Parent Project, the Netherlands)

Dr Kate Bushby (Newcastle University, UK)

Prof Dominic Wells (Veterinary College London, UK)

Prof Alessandra Ferlini (University of Ferrara, Italy)

Mrs Mirjam Franken-Verbeek (Duchenne Parent Project, the Netherlands)

Prof George Dickson (Royal Holloway College London, UK)

Dr Stephen Lynn (Newcastle University, UK)
Working group 3 (networking meetings)

Annemieke Aartsma-Rus (Leiden University Medical Center, the Netherlands)


Dr Elena Battaglioli (University of Milan, Italy)

Dr Alfredo Brusco (Turin University, Italy)

Dr Ruben Cauchi (University of Malta, Malta)

Dr Simona Cavalieri (Turin University, Italy)

Dr Giuseppina Covello (University of Trento, Italy)

Prof George Dickson (Royal Holloway College London, UK)

Dr Petra Disterer (University College London, UK)

Dr Samir El Andaloussi (Karolinska Institutet, Sweden)

Prof Mike Gait (Cambridge University, UK)

Ms Lorena Gallego-Villar (Universidad Autonoma, Madrid, Spain)

Dr Elisa Giorgio (University of Turin, Italy)

Dr Suzan Hammond (Oxford Univeristy, UK)

Dr Cecilia Jimenez-Mellebrera (Hospital Sant Joan de Deu, Barcelona, Spain)

Ms Silvana Jirka (Leiden University Medical Center, the Netherlands)

Dr Bernard Khoo (University College London, UK)

Dr Liz O’Donovan (Cambridge University, UK)

Dr Chiara Passarelli (University of Ferrara, Italy)

Dr Linda Popplewell (Royal Holloway College London, UK)

Dr Valerie Robin (University of Versaille, France)

Dr Willeke van Roon-Mom (Leiden University Medical Center, the Netherlands)

Prof Volker Straub (Newcastle University, UK)

Ms Ingrid Verhaart (Leiden University Medical Center, the Netherlands)

Dr Haiyan Zhou (University College London, UK)

Prof Dominic Wells (Royal Veterinary College London, UK)

Dr Nathalie Goemans (Leuven University, Belgium)

Dr Mad Aboe Jensen (Santaris, Denmark)

Dr Aurélie Goyenvalle (University of Versaille, France)

Dr Françoise Rouault (Association Française contrez les myopaties, France)

Prof Maggie Walter (Munich University, Germany)

Dr Janbernd Kirschner (Freiburg University, Germany)

Dr Anwar Ryan (Qasemi Research Center, Israel)

Prof Alessandra Ferlini (University of Ferrara, Italy)

Dr Michela Denti (University of Trento, Italy)

Ms Mirjam Franken-Verbeek (Duchenne Parent Project, the Netherlands)

Prof Bård Smedsrød (University of Tromsø, Norway)

Dr Magnhild Rasmusen (Norway)

Dr Sandra Alves (Center of Medical Genetics Dr Jacinto Magalhães, Porto, Portugal)

Dr Lourdes Desviat (Universidad Autonoma, Madrid, Spain)

Dr Virginia Arechavala-Gomeza (University of Bilbao, Spain)

Prof Edvard Smith (Karolinska Institutet, Stockholm, Sweden)

Prof Matthew Wood (Oxford University, UK)

Dr France Pietri-Rouxel (Institute de Myologie, Paris, France)

Dr Sabine Krause (Munich University, Germany)

Dr Liliana Matos (Center of Medical Genetics Dr Jacinto Magalhães, Porto, Portugal)

Dr Francina Munell Casadesus (Institut de Recerca Hospital Vall d'Hebrón, Barcelona, Spain)
Working group 4 (stakeholder communication)

Annemieke Aartsma-Rus (Leiden University Medical Center, the Netherlands)



Mirjam Franken-Verbeek (Duchenne Parent Project, the Netherlands)






I.B. Management Committee member list


Chair

Country

E-mail

Dr Annemieke Aartsma -Rus

Netherlands

a.m.rus@lumc.nl

Vice chair

 

 

Prof Dominic Wells

United Kingdom

dwells@rvc.ac.uk










MC Member

 

 

Dr Nathalie GOEMANS

Belgium

nathalie.goemans@uzleuven.be

Dr Mads Aaboe JENSEN

Denmark

MA@Santaris.com

Dr Aurélie GOYENVALLE

France

aurelie.goyenvalle@uvsq.fr

Dr Françoise ROUAULT

France

FROUAULT@afm.genethon.fr

Prof Maggie C. WALTER

Germany

maggie.walter@lrz.uni-muenchen.de

Dr Janbernd KIRSCHNER

Germany

Janbernd.Kirschner@uniklinik-freiburg.de

Dr Anwar RAYAN

Israel

a_rayan@qsm.ac.il

Prof Alessandra FERLINI

Italy

fla@unife.it

Dr Michela Alessandra DENTI

Italy

denti@science.unitn.it

Dr Ruben CAUCHI

Malta

ruben.cauchi@um.edu.mt

Ms Ir. Mirjam FRANKEN-VERBEEK

Netherlands

dpp@euronet.nl

Prof Bard SMEDSROD

Norway

bard.smedsrod@uit.no

Dr Magnhild RASMUSSEN

Norway

marasmus@ous-hf.no

Dr Sandra ALVES

Portugal

sandra.alves@insa.min-saude.pt

Dr Lourdes DESVIAT

Spain

lruiz@cbm.uam.es

Dr Virginia ARECHAVALA-GOMEZA

Spain

Virginia.ArechavalaGomeza@osakidetza.net

Prof Edvard SMITH

Sweden

Edvard.smith@ki.se

Prof Matthew WOOD

United Kingdom

matthew.wood@dpag.ox.ac.uk

MC Substitute

 

 

Dr France PIETRI-ROUXEL

France

france.pietri-rouxel@upmc.fr

Dr Sabine KRAUSE

Germany

sabine.krause@med.uni-muenchen.de

Dr Liliana MATOS

Portugal

liliana.matos@insa.min-saude.pt

Dr Francina MUNELL CASADESUS

Spain

fmunell@ir.vhebron.net

Prof Francesco MUNTONI

United Kingdom

f.muntoni@ucl.ac.uk

Prof George DICKSON

United Kingdom

g.dickson@rhul.ac.uk


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