A molecular technique originally developed at the University of North Carolina at Chapel Hill has taken one step closer to becoming a treatment for the devastating genetic disease Duchenne muscular dystrophy.
The novel treatment uses strips of genetic code – called antisense oligonucleotides – to restore the function of a defective dystrophin gene. In a study published July 25, 2011 in the journal The Lancet, researchers from the U.K., U.S. and Australia demonstrated that a phase Ib/IIa trial of the approach restored production of the critical muscle protein missing in patients with the progressive neuromuscular condition.
To prove this concept, the scientists administered the treatment intraveneously (IV) to 19 Duchenne muscular dystrophy patients over the course of 12 weeks. They found that the drug was well tolerated and appeared to increase the levels of dystrophin protein in a statistically significant dose-dependent manner. The best 3 responders showed an increase following treatment of protein levels from 2 percent to 18 percent, from 0.9 percent to17 percent and from 0 percent to 7.7 percent of normal muscle, respectively.