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Duchenne muscular dystrophy is a rare, genetic disorder that affects approximately 1 in every 3,500 male births worldwide. It is caused by an absence or mutation of the dystrophin gene, which is responsible for providing structural support to muscle fibers.
Children and young adults with Duchenne muscular dystrophy experience progressive muscle weakness and wasting, which ultimately affects their ability to walk, breathe and perform other basic functions. The life expectancy for those affected ranges from the late teens to early 30s.
Despite decades of research, there is no known cure for Duchenne muscular dystrophy. However, recent advancements in gene therapy have raised hope among families living with this devastating disease.
Gene therapy involves modifying a patient’s DNA to replace or repair the defective gene that causes the condition. In the case of Duchenne muscular dystrophy, gene therapy aims to restore dystrophin production and halt or slow muscle degeneration.
Clinical trials for gene therapy have shown promising results, with some patients demonstrating improved muscle function and mobility. However, the therapy is still in its experimental stages and requires further research and development.
Families affected by Duchenne muscular dystrophy have become fierce advocates for gene therapy research and accessibility. Many have created foundations and participated in clinical trials to help accelerate the development of effective treatments.
Parents like Jenn McNary and Christine McSherry, who both have sons with Duchenne muscular dystrophy, have dedicated themselves to advancing gene therapy research. McNary founded the nonprofit organization Run for Our Sons, which has raised millions of dollars for research. McSherry founded the nonprofit organization JDFF (Jesse’s Journey Duchenne Foundation) which is said to have given the greatest amount of money for Duchenne research.
In April 2019, the U.S. Food and Drug Administration (FDA) approved Sarepta Therapeutics’ gene therapy drug, Zolgensma, for the treatment of spinal muscular atrophy in infants and young children. This approval marked a significant step forward for gene therapy and raised hopes for those living with other neuromuscular diseases, including Duchenne muscular dystrophy.
The approval of Zolgensma has also sparked renewed debate around the costs of gene therapy and accessibility for patients. The treatment currently costs $2.1 million per dose, making it one of the most expensive drugs on the market. Critics argue that such a high cost creates a barrier to access for patients who need it the most.
Despite the challenges, families affected by Duchenne muscular dystrophy remain optimistic about the future of gene therapy. Some believe that, with continued research and development, a cure or effective treatment for the disease could be within reach.
For some researchers and families, gene editing technology offers even greater potential benefits beyond gene therapy, including the ability to cure genetic conditions and prevent them from being passed on to future generations.
In September 2020, the Nobel Prize in Chemistry was awarded to Dr. Jennifer Doudna and Dr. Emmanuelle Charpentier for their work in developing CRISPR-Cas9 gene editing technology, which has the potential to revolutionize gene therapy.
Gene therapy and gene editing are still in their infancy, but the progress made over the past few years is a testament to the power of scientific innovation and human determination. As families affected by Duchenne muscular dystrophy continue to push for research and accessibility, they are bringing us one step closer to a world without genetic disease.