Action plan 2011-2013

8 - Joint research for DMD Biobanks


1 -

Exon skip workshops

Organization of approximately 2 exon skipping workshops a year with topics based on necessity, hosting to be rotated between partners.





Achievements 2011-2013

Organisation of regular meetings

When EU funding of TREAT-NMD ended, two workshops on exon skipping (Leiden, 2012) and biomarkers (Rome, 2012) were kindly funded by the Dutch Duchenne Parent Project and the Italian Duchenne Parent Project Onlus.

Furthermore, an ENMC workshop “Towards clinical application of antisense-mediated exon skipping for Duchenne muscular dystrophy” (Naarden, December 2012) involving scientists, clinicians, industry representatives, patient representatives and a regulatory expert was organized to discuss furthering this approach. The meeting report can be found here.

As of April 2013, funding has been obtained from the Cooperation of Science and Technology (COST) for the Action “Networking towards clinical application of exon skipping” (see for more details, also on how to join this network). This network focuses on exon skipping for rare diseases, using Duchenne muscular dystrophy as a paradigm. The funding amongst others covers the organisation of 2-3 yearly workshops on exon skipping and exon skipping related issues from 2013 – 2017. Under the umbrella of COST a workshop on “Delivery of exon skipping compounds” was held in Leiden in September 2013 (organized by Annemieke Aartsma-Rus).

Harmonization of biochemical outcome measures (dystrophin quantification)

Francesco Muntoni (University College London, UK) has coordinated an effort to compare different immunofluorescence and Western blotting analysis methods used in clinical trials to quantify dystrophin levels, involving also Kevin Flanigan (Columbus OH, US), Volker Straub (Newcastle University, UK), Afrodite Lourbakos (Prosensa Therapeutics, the Netherlands) and Thomas Voit (Institute de Myologie, Paris, France). This endeavor revealed good comparability of different methods and also of different groups performing the same analysis (Anthony et al, submitted manuscript). It was sponsored by AFM and COST.

12 Apr 2017