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Some people have mentioned to us that they want to know more about Duchenne Muscular Dystrophy (DMD) and the ongoing research. Below are some highlights so you can understand what has been achieved recently, what needs to continually occur, and what still needs to be accomplished. Closest to our hearts is where research dollars are being spent to find a therapy or a cure. Most of the following information was referenced from Treat-NMD (http://www.treat-nmd.eu/home.php) and Parent Project Muscular Dystrophy (http://www.parentprojectmd.org/site/PageServer?pagename=nws_index).
 
 

STANDARD OF CARE

In January 2010 a major international consensus document setting out best practices for care for DMD is now available for families. It is recognized that receiving the best care can dramatically improve the quality of life and life expectancy of individuals with DMD, enabling them to lead fulfilling, independent lives into adulthood. The importance of care recommendations such as these therefore cannot be underestimated. The international guidelines, which cover the diagnostics, cardiovascular, neuromuscular, gastroenterology/nutrition, orthopedic/surgical, psychosocial, rehabilitation and respiratory fields, can be used by doctors, patients and families as a guide to the treatment that individuals with Duchenne should receive at each stage of the disease. They are also a valuable tool for lobbying at a national level to enable incorporation of these recommendations into our national health systems (see link below).
 
 

MD-CARE ACT

The Muscular Dystrophy Community Assistance, Research, and Education (MD-CARE) Act was signed into law by President George W. Bush in December of 2001. The MD-CARE Act provides critical authority and direction for muscular dystrophy research, including Duchenne.

  1. It establishes an interagency at the National Institutes of Health (NIH) to expand, intensify and coordinate research activities related to muscular dystrophy.
  2. It authorizes three centers of excellence for muscular dystrophy research at NIH.
  3. It authorizes the Centers for Disease Control and Prevention (CDC) to initiate epidemiology, data collection and surveillance activities specific to muscular dystrophy.

Parent Project Muscular Dystrophy (PPMD) initiated and pushed the original legislation in 2001, and again led the effort to advocate for the law’s reauthorization. This action continues the hope that we are on the path toward a cure. This reauthorization bill was passed by Congress in December 2008 for the next five years. With the recent passage of the MD Care Act Reauthorization, we now need to continue our presence in Washington by requesting funds from Congress for research and education.

One of the many challenges faced by the Duchenne community is the lack of awareness about this devastating and life-altering disorder. Many people have never heard of Duchenne, so by increasing awareness this can become a powerful way to help in the fight against Duchenne. To join PPMD’s advocacy efforts please visit the advocacy section of their website. http://www.parentprojectmd.org/site/PageServer?pagename=ending_speakup
 
 

RESEARCH

While there is still no cure for DMD, there is substantial active research and several potential new therapies being tested in clinical trials. There are numerous therapeutic approaches and the majority follow the same road of preclinical to clinical studies. First the approach is tested in cultured patient cells, then in animal models of the disease and then when the results in cells and animals are sufficiently convincing, in patients (clinical trials). Unfortunately, this part of therapeutic development can take a very long time. 

Remember, DMD is a degenerative muscle disease caused by any of a number of mutations in the X-chromosome gene that carries instructions for the muscle protein dystrophin. Without dystrophin, muscle fibers are abnormally fragile and break down under the stress of contractions.

1. Gene Therapy – Gene therapy for Duchenne is centered on the goal of successfully introducing the correct code for the dystrophin protein into a muscle cell, thereby providing the cell with the recipe needed to produce dystrophin, and, ultimately, curing the disorder. Gene therapy will only work, however, if scientists can find a means of transporting the correct genetic code for the dystrophin protein into each muscle cell in the body. Many scientists working with gene therapy are pursuing a plan to use viruses to transport this genetic information.

2. Cell Therapy – Scientists have developed strategies that aim to coax muscle cells into producing the dystrophin protein without recoding dystrophin’s basic genetic code. These proposed cell therapies attempt to at least partially offset the muscle damage caused by the flawed genetic code. Scientists have begun to develop cell therapy techniques that use stem cells derived from muscle. These are essentially immature muscle cells with the potential to develop into a variety of types of tissues, including skeletal muscle. Stem cells derived from muscle are very different from embryonic stem cells, which are immature cells harvested from human embryos that can develop into any type of body tissue, and are the subject of ongoing ethical debate.

3. Drug Therapy – Drugs are used to treat the various aspects of disease pathology. Due to the loss of dystrophin, patient's muscle fibers are continuously damaged during exercise. Lost muscle tissue is replaced by scar tissue. This process is irreversible and is exacerbated by an immune response that is initiated by the muscle damage. Drugs can help to increase muscle growth, to compensate for the lost muscle tissue. Alternatively, they can suppress the immune system or inhibit scar tissue formation. However, a disadvantage is that the drugs only treat the symptoms of the disease, not the cause. The vast majority work temporarily to slow down disease progression.

  • Corticosteroids - The aim of corticosteroids (like the Deflazacort RJ takes daily) is to suppress the immune system in order to reduce the formation of scar tissue. By suppressing the immune system with corticosteroids, muscle damage will be less severe and less scar tissue will be formed. The general consensus is that corticosteroids do work to delay the disease progression. It will delay wheelchair dependency by approximately1-3 years, will temporarily improve muscle strength and function and will delay the loss of respiratory function. The biggest challenge is that corticosteroids have to be taken regularly which results in side effects in most patients. The most common are weight gain, depression, behavioral problems, stunted growth, delayed puberty and loss of bone mass.

4. Mutation Specific Therapy – There are two very promising mutation therapies. We have to admit they are very scientific and confusing so we won’t go into much detail.

  • PTC124  - The aim is to allow muscle cells to ignore certain DMD-causing mutations and produce a complete dystrophin protein (clinical human trials are ongoing).
  • Exon Skipping – The aim is to correct the genetic code and allow the production of a partially functional dystrophin. Exon skipping is among the most promising strategies for the treatment of the type of DMD that RJ has. The good news is that the first U.S. trial will begin in spring 2010 at Nationwide Children's Hospital in Columbus, Ohio.