Gene Therapy for Duchenne Muscular Dystrophy: A Life-Saving Treatment Worth Millions

A six-year-old Turkish boy, Cinar Atar, was diagnosed with the rare and severe genetic disorder – Duchenne Muscular Dystrophy (DMD) – when he was just four. DMD is a progressive genetic disorder that causes muscle degeneration and weakness, which affects one in every 3,500 boys globally. Currently, it is the most common form of muscular dystrophy that primarily affects boys, usually beginning during early childhood, between the ages of two and three. There was no treatment available in Turkey for this life-threatening condition, but Cinar’s family came to Dubai, where gene therapy was available, after being advised by volunteers and charities. After receiving the Dhs10.6-million therapy, Cinar has shown a mild improvement in his strength, which is measured by certain functional scores, along with no side-effects so far.

What Is Duchenne Muscular Dystrophy (DMD)?

Duchenne Muscular Dystrophy (DMD) is a genetic disorder that affects predominantly boys worldwide, causing skeletal and cardiac muscle weakening. DMD is caused by mutations in the dystrophin gene, which is required for muscle integrity. Due to the absence of dystrophin, muscle cells get injured and weaker over time which results in progressive muscle degeneration and weakness. The symptoms of this condition usually begin during early childhood, usually between the ages of two and three.

Gene Therapy for Duchenne Muscular Dystrophy (DMD)

Gene therapy is a promising treatment for over 400 DMD patients worldwide, and recently approved by the US Food and Drug Administration (FDA) to treat the condition. It is among the world’s most expensive life-saving treatments and available in just a few countries like the UAE. During the therapy, a shortened version of the dystrophin gene – known as micro-dystrophin – is delivered into the bloodstream of the affected individual as a one-off infusion. This functional gene fragment helps to maintain the muscle’s integrity and keeps it from breaking or degenerating, which ultimately strengthens the muscles. The therapy is designed to administer micro-dystrophin to the muscles and make a smaller but functional dystrophin protein. The patient receives steroids, usually started a day before the treatment and continued for two to three months, to minimize the side effects. The therapy is only administered once and has shown no side effects so far in Cinar Atar.

Post-Therapy Monitoring and Future Expectations

After receiving the therapy, the child is regularly monitored to track the progress and any side effects. Cinar Atar underwent weekly blood tests, physiotherapy and rehabilitation, and has shown mild improvement in his strength, which is usually measured by certain functional scores. He will still need to see different doctors and physiotherapists for monitoring and screening muscle functions to measure his improvement through tests and assessments in the future. The therapy only delivers an element of a missing gene into the muscle cells, and it doesn’t change the hereditary defect that Atar was born with. The patient remains cautious, and the doctors stay alert to reduce any chance of the side effects, but one can only hope that this new therapy will change the natural course of Cinar’s condition and give him a better life ahead.

In Conclusion

Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder that affects predominantly boys worldwide, caused by the absence of dystrophin that eventually leads to progressive muscle degeneration and weakness. There is no cure for DMD yet, but gene therapy is a promising treatment that has shown positive results in over 400 DMD patients worldwide. The one-off infusion delivers a shortened version of the dystrophin gene, called micro-dystrophin, into the bloodstream that allows the muscle to generate smaller but functional dystrophin protein. While expensive, it is a life-saving treatment that offers mild improvement in strength with minimal side effects. Regular monitoring after the therapy can help track progress and measure improvement through certain functional scores and assessments, but caution is still necessary, given that the therapy doesn’t change the hereditary defect. As advancements continue, gene therapy might become the go-to treatment for DMD patients worldwide, giving them a better life ahead.

Originally Post From https://www.khaleejtimes.com/uae/dubai-dh10-6-million-therapy-helps-treat-6-year-old-with-rare-genetic-disorder

Read more about this topic at
The Top 5 Most Expensive FDA-Approved Gene Therapies
Kyowa Kirin’s gene therapy most expensive US drug with …