In collaboration with the Dutch biotech company Prosensa BV, and supported by the national and international Duchenne Parent Projects, and governmental and charity funds, Dr. J. van Deutekom and her team will soon start a clinical trial, based on intramuscular injection of a single dose of an anti-sense drug that induces the skipping of exon 51 from the DMD gene. Six Dutch DMD patients aged between 8 and 16 years with genetic mutations that are correctable by skipping that particular exon will take part.
This human trial is being supported by animal work. The team has used the muscular dystrophy mouse model to study optimal dose regimes, and further study exon skipping levels. This study found no clinical adverse signs, and the restoration of dystrophin levels, even in the heart.
"Of all the different strategies against DMD currently being contemplated," said Professor van Ommen, "this is the one closest to clinical application. The patients in the trial have already been pre-screened, and we have seen the effect of the anti-sense drug in their isolated and cultured muscle cells. We are optimistic that this small scale trial will be the precursor of major clinical studies, which will lead in turn to a safe and efficient full body treatment for DMD patients. Currently no therapy is available for this disease, which represents a huge psychosocial and economic burden to patients, carers and society."