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

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authorities to discuss alternatives to develop this approach for small patients groups, 3) networking workshops where unpublished data are shared confidentially between Parties to foster synergistic work and avoid duplication, 4) training of young scientists in unbiased and clear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