Researchers at Genzyme have found a way to shut down the genes associated with the neuromuscular disease myotonic dystrophy type 1, a type of muscular dystrophy, with an RNA-targeted drug delivery strategy.
The Sanofi ($SNY) company showed in animal trials that the drug almost completely eliminated symptoms of the disease, which include complications of the heart, central nervous system and gastrointestinal tract, as well as muscular weakness and prolonged muscle contractions, called myotonia. The Genzyme team used cell-penetrating peptides to ensure the drugs would reach the muscle cells when injected.
The class of drugs--antisense oligonucleotides, or ASOs--targets the specific genetic mutation in RNA that codes for myotonic dystrophy. The ASOs are designed to neutralize the RNA mutation and minimize or eliminate the symptoms by degrading the sequence of nucleic acids. There are no therapeutic agents currently in the clinic that target RNA specifically for the treatment of myotonia.
The researchers found that the treatment improved upon current standards of symptom-based care, including the sodium channel blocker mexiletine, according to the study.
It's not the first time Genzyme has overseen this kind of research--working with Isis Pharmaceuticals ($ISIS) and the University of Rochester Medical Center, the company made headway on a general framework for the drug last year in similar animal testing.
Myotonic dystrophy affects at least 1 in 8,000 people worldwide, according to the National Institutes of Health, with type 1 being the most common.
- here's the study
- and the publication's rundown