Last week in Europe, Sarepta Therapeutics announced the initiation of their first human trial for the new drug SRP-4053 for Duchenne Muscular Dystrophy (DMD). SRP-4053 has shown remarkable promise in treating this debilitating childhood disease in the laboratory, and researchers are highly optimistic of the potential outcomes of a human trial.
Muscular dystrophy (MD) is a group of diseases that cause increasing muscle weakness, as well as a decrease in the body’s muscle mass due to genetic mutations that block production of important proteins needed for proper muscle function. DMD is the most commonly diagnosed type of MD and is caused by the loss of the protein dystrophin, which is responsible for muscle movement. DMD most often affects boys between the ages of 3 and 5 (1 in 3,600). It is usually diagnosed before the age of six, prior to the typical rapid progression of symptoms that often include losing the ability to walk by age 12 and significant deterioration of both lung and heart function. These symptoms generally lead to premature death in affected patients.
There is currently no treatment available that successfully reverses the body’s inability to produce dystrophin, but that is exactly what researchers at Sarepta Therapeutics are attempting to change with the introduction of SRP-4053. SRP-4053 is an exon-skipping drug, meaning that it ‘skips’ over the exons (the protein encoding portion of a gene) that cause deletions and loss of healthy proteins. In DMD this means that the inaccurate codes within a gene are skipped and not read so that the production of dystrophin is increased, potentially to normal levels. Researchers are confident SRP-4053 will result in improved muscle mass and function in children diagnosed with DMD, over the course of the clinical trial.
The clinical trial will be conducted at four sites throughout Europe with study aims that include assessing the safety, tolerability, and success in patients with DMD. The trial is still in the recruitment stage and will be a multiple-dose study over a period of months. This is the second drug of its kind that Sarepta Therapeutics has tested, as their Chief Medical Officer Edward Kaye, M.D. stated, “We are excited to add a second exon-skipping drug to our clinical development pipeline.”
Serepta Therapeutics and their collaborators are not the only biotech researchers working hard to find a successful treatment modality for DMD patients. Companies such as BioMarin Pharmaceuticals are also bringing exon-skipping therapies to the table in an attempt to find a potential cure for this crippling disease. For juvenile patients with DMD and their parents, new drug trials and a bit of competition in the market are all good indicators that there is hope on the horizon for a possible cure.