Progress report
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- Bu səhifədəki naviqasiya:
- I. Management Report
- Executive summary (max.250 words)
- I.A. COST Action Fact Sheet COST Action
- End date
- Intentions to accept
- Science Officer
- I.B. Management Committee member list Chair
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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:
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
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.
Colleagues from Switserland are in the process of applying.
Action Web site: http://www.exonskipping.eu
Working group 1 (biochemical outcome measures) Prof Francesco Muntoni (University College London, UK) Prof Alessandra Ferlini (University of Ferrara, Italy)
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 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)
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)
Annemieke Aartsma-Rus (Leiden University Medical Center, the Netherlands) Mirjam Franken-Verbeek (Duchenne Parent Project, the Netherlands) 
 
I.B. Management Committee member list
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