Gene therapy - providing hope to patients with DMD

World Duchenne Awareness Day (September 7) is a moment for us to reflect on the huge challenges faced by patients with Duchenne muscular dystrophy (DMD) – mostly boys who are usually diagnosed between the ages of three and five.  

This genetic disorder affects approximately one in 3,500 male births worldwide1 and leads to muscle degeneration. Children born with this condition cannot produce dystrophin, a protein that is vital for muscle strength and function. Most children with DMD will be in a wheelchair by their teens; additionally, weakening of the heart and respiratory muscles can lead to serious, life-threatening complications.2 Despite recent advances, this disease remains one for which there remains a high unmet medical need.

But there is hope. Scientists are now opening the door to potential new treatments for rare diseases that were previously considered intractable. For example, advances in research have led to the development of gene therapy that targets the underlying cause of genetic diseases, with the potential to transform patients’ lives. 

This is a key area of research for us at Pfizer. Our scientists and clinicians are currently working to develop treatment options for diseases with single gene alterations, including DMD as well as hemophilia A and B, using adeno-associated virus (AAV) vector-mediated gene transfer. It’s a promising concept, but far from simple to achieve. Nevertheless, we remain optimistic about the promise of this therapeutic concept for patients with DMD. Based on our research findings in models of the disease coupled with the early clinical data that were reported at a recent scientific conference, there is encouragement that this therapeutic paradigm may offer relief to patients with this devastating disease.

Although we know that there are no guarantees, we are focused on our purpose. We’re motivated, every single day, by the knowledge that young patients and their families are anxiously watching and waiting for a treatment that could change their lives. We are aware of this sense of urgency and will continue to work hard to translate this potential therapy to fruition.