Medical research is incredibly important, especially within the rare disease community. Rare conditions tend to be under-researched and under-funded; this can make it difficult not only to better learn about the disease itself, but about potential treatment options. RegMedNet recently reported that the Muscular Dystrophy Association (MDA) will fund 2 grants to further research into challenges associated with AAV-based gene therapy solutions for individuals living with Duchenne muscular dystrophy (DMD). 

The MDA decided to award these grants following a summit held by the Illinois chapter. During this summit, participants shared insights into potential AAV gene therapy safety issues, adverse treatment reactions, and more targeted therapeutic development. 

AAV-based gene therapy has shown promise for DMD treatment. However, some individuals in clinic studies have experienced serious reactions in relation to transgene immunogenicity. Given the relationship between these transgene issues and specific patient genotypes, up to 15% of individuals living with Duchenne muscular dystrophy are not allowed to join clinical studies. Therefore, one grant of $200K went to Professor Jefferey Chamberlain to further study transgene immunogenicity. Through this research, Professor Chamberlain will work to redesign the parts of the transgene that are causing these reactions. 

Another grant of $199,962 was granted to Professor Carrie Miceli, who is also the co-director for the Center of Duchenne Muscular Dystrophy at UCLA’s School of Medicine. Similarly, Professor Miceli will explore immune responses to potential therapeutic options; she will also evaluate factors associated with how dystrophin is expressed and how that relates to muscle function.

Hopefully, these grants will advance research to the point where more effective gene therapy solutions for patients and their families.

About Duchenne Muscular Dystrophy (DMD)

Dystrophin is a protein that, alongside other proteins, plays a role in muscle strength and function. In Duchenne muscular dystrophy (DMD), DMD gene mutations cause the body to produce low or no dystrophin. As a result of being unable to make dystrophin in their muscles, people with DMD experience muscle weakness and wasting. DMD is one of nine forms of muscular dystrophy. It occurs predominantly in males, although 1 in every 50 million females is born with this condition. Symptoms of DMD typically manifest before six years old and may include:

• Fatigue
• A waddling gait
• Frequent tripping and falling
• Muscle pain and stiffness
• Enlarged calves 
• Scoliosis
• Learning disabilities
• Difficulty walking, climbing, or moving positions
• Muscle weakness that begins in the legs, thighs, and pelvis
• Heart disease
• Respiratory failure 

Treatment options are symptomatic and supportive: respiratory support, steroids, heart medication, and nutritional supplementation.