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13 Jun 2012

First advances in gene surgery

Illustration for article: First advances in gene surgery
Duchenne muscular dystrophy (DMD) was the subject of the first gene surgery trials. It is a model disease for developing this innovative approach which will have much broader applications to diseases such as cancers, infectious diseases and heart disease.

Functional dystrophin restored by exon skipping

At the end of 2007, Prosensa and the University of Leiden (Netherlands) medical centre team published encouraging results of a first exon skipping trial of antisense oligonucleotides using intramuscular administration. Tolerance of the treatment was good and above all a truncated but functional form of the protein responsible for DMD (dystrophine) was produced in the four patients treated.

Another trial led by Prosensa showed that the same treatment administered subcutaneously allowed antisense oligonucleotides to be distributed throughout the body and dystrophin production was restored in the fifteen patients.