A Potential Gene Therapy for Duchenne Muscular Dystrophy Has Just Begun Patient Testing

A Potential Gene Therapy for Duchenne Muscular Dystrophy Has Just Begun Patient Testing

Pfizer has just begun a medical trial for a potential gene therapy treatment for Duchenne muscular dystrophy, and the first patient has been dosed. Click here to read the original press release at Business Wire.

Duchenne muscular dystrophy (DMD) is a genetic disease most commonly found in men that affects muscle function. It occurs when a genetic mutation disrupts the gene responsible for creating the protein dystrophin. As a result, the protein doesn’t work correctly and this leads to changes in muscle fibres. This causes people with DMD to have muscle problems that often worsen over time. In its most serious form, DMD can cause the heart or lung muscles stop functioning. Unfortunately, there is not currently a cure for DMD. The available treatment options focus on limiting symptoms and improving quality of life. They include physiotherapy, surgery, and steroid treatments that slow disease progression. However, gene therapies are thought to be a promising new area of treatment research.

Pfizer’s potential new gene therapy, called PF-06939926, is a treatment that targets the underlying genetic cause of DMD. It replaces the dystrophin gene that is dysfunctional in DMD patients with a new, functional copy that will be activated. The gene is carried to the cells using a virus that targets muscle tissue.

This therapy has been granted Orphan Drug status by the US Food and Drug Authority in recognition of the potential it may have for improving the lives of patients with DMD. This designation provides the developing company, Pfizer, with assistance during the clinical trial stages of development, and economic incentives to bring the drug to market. The patient advocacy group Cure Duchenne has also endorsed the gene therapy trial.

Researchers at Pfizer are currently carrying out a clinical trial to test the safety and effectiveness of the therapy in DMD patients. The first person to be treated was a boy who was given an infusion of the drug on the 22nd March this year. Further enrolment of about twelve young patients will continue at four medical research sites in America. The first results from this trial are expected to be published during the first six months of 2019, once all patients have spent a year on the trial.

In addition to this, Pfizer is also currently carrying out a phase 2 trials for a second potential treatment for DMD, known as domagrozumab. This medicine is antibody-based and works by blocking the activity of a protein that inhibits muscle growth.

If clinical trials show these medicines to be safe, effective, and suitable for widespread use, they would provide DMD patients with additional treatment options that are desperately needed.


Anna Hewitt

Anna is from Cambridge, England and recently finished her undergraduate degree, where she specialised in Biological Anthropology. She has an interest in medicine and enjoys writing. In her spare time she likes to cook, hike, and hang out with cats.

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