Duchenne Muscular Dystrophy (DMD) is the most lethal genetic childhood disease known today. The genetic disorder is characterized by progressive muscle degeneration and weakness. The disease affects approximately 1 in every 3,500 males. There are currently more than 20,000 boys in the United States with DMD and more than 100,000 worldwide.
What Causes Duchenne Muscular Dystrophy?
Duchenne Muscular Dystrophy (DMD) is caused by a mutation of the dystrophin gene, the gene that carries the genetic information or “recipe” for the construction of the dystrophin protein. Without the proper genetic information, the body does not produce a functional version of the dystrophin protein, which normally serves to surround the muscles cells, maintain their structure and hold the muscles together. The dystrophin protein is the largest protein in the body, is found dispersed throughout the skeletal, cardiac and smooth muscle tissue and is also believed to carry signals in and out of muscle fibers. Without this protein, the muscles become increasingly weaker, until the body can no longer survive. Since the dystrophin gene is carried on the X-chromosome, the disease is either passed on by a mother that is a genetic carrier of the mutated dystrophin gene or is caused by a spontaneous mutation in the dystrophin gene after conception. This means that a mother carrying a healthy gene can give rise to a child with DMD. Because the dystrophin gene is carried on the X-chromosome, this disease usually affects boys, since girls have two X-chromosomes and can fall back on one if the other carries a faulty gene.
How Do You Get the Disease?
This is a genetic disease that can either be passed on to a son from a mother carrying the gene prior to birth, or even more importantly, can occur as a spontaneous mutation after conception.
What Happens to Boys Born with Duchenne Muscular Dystrophy?
Boys are usually diagnosed when they begin to walk because muscle weakness gives them trouble. By the early to mid-teen years, they are usually non-ambulatory, completely wheelchair dependent and by their early-twenties may be ventilator dependent. Due to advances in cardiac and respiratory care, life expectancy is increasing.
Progressive muscle weakness is the main symptom of muscular dystrophy. Other early signs and symptoms may be:
Symptoms usually appear before age 6 and may appear as early as infancy.
There is no current cure for DMD. Treatment is aimed at controlling the symptoms and maximizing the quality of life. Current treatments are:
Exciting things are happening in the Duchenne Muscular Dystrophy (DMD) community, which has now become a highly collaborative group of experts working together to establish clinical care guidelines, and advance ideas for new treatments and therapies for this terrible disease. We are seeing collaboration between small and large pharmaceutical companies in bringing drugs through the trial process, and an increasing amount of communication between government regulatory agencies, advocacy groups, and scientists with the hope of identifying and removing barriers to speedy drug development for rare and deadly diseases. In addition, pending legislation in Congress (FAST Act) for accelerated approval of drugs to treat unmet, serious medical needs such as DMD will expedite availability to patients in need of treatment.
Over the past year, major strides have been made in advancing potential therapies to clinical trials. Recently, several of the most promising exon-skipping drugs manufactured by Sarepta Theapeutics and also by Prosensa Therapeutics, in collaboration GSK, for treating the largest populations of boys with DMD are reporting positive results from clinical trials. Sarepta Therapeutics announced in October 2012 that their exon 51 slipping drug, Eteplirsen, met its primary endpoint of increased novel Dystrophin protein and achieved a significant clinical benefit on the 6-minute walk test after 48 Weeks of treatment in a Phase IIb study in Duchenne Muscular Dystrophy..
Exonskipping drugs are intended to prevent formation of harmful proteins and help restore beneficial proteins. When the exon contains a disease–causing mutation, DMD for example, the resulting altered dystrophin protein may have its function restored, partially restored or neutralized by forced skipping of a specific exon. This approach may be used to overcome the consequences of DMD and potentially many other disease–causing mutations. Plans for new drug trials that would address all of the genetic mutations that cause DMD are in the works. The EU recently funded an international team of scientists to develop and test an exon 53 skipping drug for boys with DMD. The clinical trial is slated to start in 2014.
Countless new ideas for therapies are at various stages of development, and together address the many facets of this complicated disease. As a “cure” will most likely be a combination of therapies to address the many aspects of this disease, an array of vastly different yet overlapping treatments is exactly what is wished for. Scientists and clinicians along with pharmaceutical companies are developing leading technologies and therapies to alleviate many of the symptoms of DMD. The DMD community has been a strong advocate and catalyst of such research efforts. Over the next couple of years, it is hoped that the DMD community will continue to advance in a united front toward eliminating DMD.
For more information on DMD clinical trials, visit ClinicalTrials.gov. ClinicalTrials.gov is a registry and results database of publicly and privately supported clinical studies of human participants conducted around the world
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