The SKIP-NMD research project

The SKIP-NMD research project started in November 2012 with the award of an EU grant. The project brought together a consortium of researchers, clinicians and companies from across the field to develop and test a new molecular patch for exon 53 of the dystrophin gene.

 

Members of the Skip-NMD consortium recently met in Rome for their latest scheduled six monthly meeting. The meeting was hosted by Professor Mercuri, one of the principal investigators of the project, and was attended by more than 30 members of the consortium which includes clinicians, scientists, radiologists and physicists, coordinators, therapists, ethicists, representatives from patient organisations from the UK, France and Italy and the consortium’s industrial partner Sarepta Therapeutics from the USA.

 

The meeting focused on the following points:

-          From an administrative perspective, confirmation that the project is perfectly on track with all expected milestones having been met on time and on budget

-          From a study protocol perspective, a detailed discussion with all partners took place that allowed the study protocol (or design of the clinical trial) to be finalised

-          From a technical perspective, specific issues on the natural history of Duchenne muscular dystrophy and the optimal outcome measures (muscle function tests, biomarkers, muscle imaging) were discussed so the standard operative procedures that will be used during the trial could be finalised

-          From an ethical perspective, the topic of how to best provide information to families and children was discussed in detail. Novel innovative dissemination material suitable for young children was discussed and will be introduced in the consent and assent process for the clinical trial. The content of these assent and consent forms was also discussed and improved

 

Following the meeting, Sarepta Therapeutics has successfully submitted the study protocol to regulatory authorities and assuming a favourable response is received, the clinical trial will start late in 2014 and further information about the trial will be made available on the SKIP-NMD website shortly. The Muscular Dystrophy Campaign will also be hosting a webinar to provide information about the SKIP-NMD trial to people in the UK. It will take place at 5pm on September 8th and we will announce more details on our website as they become available.