A groundbreaking gene therapy to treat Duchenne muscular dystrophy has recently been approved by the Food and Drug Administration (FDA), bringing hope to those diagnosed with this debilitating and incurable disease.

The disease is caused by genetic mutations that prevent cells from making dystrophin, a protein responsible for maintaining healthy muscle tissue.

Symptoms begin with muscle weakness and reduced mobility in childhood and develop into cardiovascular and respiratory issues in early adulthood.

The disease is almost exclusively found in males, affecting approximately one in 3,500 boys. Most patients die by the time they reach their early 20s.

A new treatment, Elevidys, developed by Sarepta Therapeutics, addresses the root genetic cause of the disease by delivering a gene that allows muscle cells to produce a shortened form of dystrophin, which prevents the further deterioration of muscles. The treatment is administered as a single intravenous dose, but will sadly cost $3.2 million per patient, making it one of the most expensive drugs on the market. This hefty price tag is typical of the growing number of one-time gene therapies available.

The disease is caused by genetic mutations that prevent cells from making dystrophin, a protein responsible for maintaining healthy muscle tissue

Despite Elevidys being the only gene therapy approved for Duchenne muscular dystrophy, it is currently restricted to patients aged four and five until more evidence from a larger trial is available to demonstrate safety and efficacy.

The treatment was approved through the FDA’s Accelerated Approval pathway, which speeds up access to a drug when the treatment is likely to improve the quality of life of patients or extend their survival. This approval process has sparked controversy, since it helps address an urgent unmet need to treat a deadly disease, but, on the other hand, some companies have used this approval pathway, then failed to confirm afterwards that their treatments really work.

While Elevidys remarkably improved mobility and quality of life in patients, existing data still suggests that younger patients benefit the most. Patient advocacy groups argue that any improvement is valuable, due to the disease’s severity, and are pushing for approval for a broader range of patients. The drawback is that patients who receive the treatment may become ineligible for future treatments that may be more effective ‒ a difficult decision for all.

Francesca Busuttil has a PhD in regenerative medicine from University College London. She is currently working as a part-time researcher and lecturer at MCAST and is the science officer of the Malta Chamber of Scientists.

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DID YOU KNOW?

•        There are around 20,000–25,000 genes in the human genome, almost 10,000 less than the tiny water flea Daphnia.

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•        NASA experts believe there could be anywhere from 100 to 400 billion stars in the Milky Way.