COST Action BM1207 - Networking towards clinical application of antisense-mediated exon skipping

Abstract:

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authorities to discuss alternatives to develop this approach for small patients groups, 3) networking workshops where unpublished data are shared confidentially between Parties to foster synergistic work and avoid duplication, 4) training of young scientists in unbiased and clear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..

Project details

Action member: Alessandra Ferlini

 Funding source: COST

Start date 03/04/2013 - end date 02/04/2017

website

Participants

  • Leiden University Medical Center, Netherlands - Chair
  • University Hospitals Leuven, Belgium
  • OpenContext, Belgium
  • The Cyprus Institute of Neurology and Genetics, Cyprus
  • Roche Innovation Center, Denmark
  • Institute of Technology, Estonia
  • University of Versailles Saint Quentin en Yvelines, France
  • AFMTéléthon, France
  • Ludwig-Maximilians-University of Munich, Germany
  • University Medical Center Freiburg, Germany
  • University of Thessaly, Greece
  • Al Qasemi Academic College, Israel
  • The Hebrew University of Jerusalem, Israel
  • Università degli Studi di Trento, Italy
  • University of Ferrara, Italy
  • University of Malta, Malta
  • Duchenne Parent Project, Netherlands
  • D'Liver AS, Norway
  • University of Tromsø, Norway
  • Public Health Center Dr. Gonçalves Ferreira, Portugal
  • Colentina University Hospital, Romania
  • Victor Babes National Institute of Pathology, Romania
  • University of Belgrade, Serbia
  • Universidad Autonoma de Madrid, Spain
  • Biocruces Bizkaia Health Reseach Institute, Spain
  • Karolinska Institutet, Sweden
  • Royal Veterinary College, United Kingdom
  • Unuiversity of Oxford, United Kingdom
  • University of Copenhagen, Denmark
  • UPMC - Inserm - CNRS Institute of myology, France
  • Friedrich Baur Institute, Germany
  • Institut de Recerca Hospital Vall d'Hebrón Barcelona, Spain
  • Institute of Child Health, United Kingdom
  • Royal Holloway, University of London, United Kingdom