Novel Investigational Therapy For Myotonic Muscular Dystrophy

Myotonic muscular dystrophy type 1 is a chronic and slowly progressing genetic disease affecting many organs. It is the most frequent form of muscular dystrophy and, as the name implies, is characterized by wasting of the muscles throughout the body. Nevertheless, the genetic defect on the myotonic dystrophy protein kinase also causes cataracts, heart conduction defects, endocrine changes, and myotonia.

Currently, there is no cure or specific treatment for myotonic dystrophy. As such, management of affected patients is directed to the complications of the disease, namely insertion of pacemakers in cases of cardiac conduction abnormality and non-invasive ventilation in case of sleep apnea.

Now, a recent study published in the Human Molecular Genetics journal describes a novel treatment approach to the disease. Senior author Dr. Mani S. Mahadevan was involved in the discovery of the gene defect associated to the disease and, with his team of researchers, has now discovered a therapy that may change disease progression and symptoms with a potential improvement of patients’ quality of life.

The team from the University of Virginia School of Medicine, Department of Pathology, have evaluated a potential medication that blocks an important molecular pathway of the disease called TWEAK. This therapy is already being studied for other diseases such as rheumatoid arthritis and has already been shown to be safe to administer in humans, the first stage of therapy approval.

Specifically, researchers found that both humans and mice with myotonic muscular dystrophy have excessive activity of the aforementioned pathway and that higher pathway activity is associated with worse disease symptoms. Furthermore, they used a therapy produced by the biotech company Biogen Idec to block the TWEAK pathway in mice with myotonic muscular dystrophy. The study showed that mice under treatment had better muscle function in various tests, their muscles became healthier and, interestingly, many mice had a longer life expectancy.

In conclusion, as the therapy has already passed the safety study phase, investigators can use this newly acquired knowledge to start clinical studies on this promising treatment for muscular dystrophy, determining its efficacy for this malignancy.