Research and Pipeline

Vertex is focused on discovering, developing and commercializing innovative medicines so people with serious diseases can lead better lives. Our scientists don’t see the impossible as an obstacle; they see it as a good place to start.

These studies are investigating treatments or outcomes that have not all received approval from a health authority. The information presented is not intended to convey conclusions of safety or efficacy. There is no guarantee that the outcome of these studies will result in approval by a health authority. 

About Duchenne Muscular Dystrophy

What is Duchenne muscular dystrophy? Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy in children. DMD is an inherited disease primarily seen in boys that causes progressive muscle weakness and muscle wasting and initially leads to the inability to walk. As children with DMD grow older, their symptoms get worse. Muscle deterioration also leads to heart problems including cardiomyopathy, which may have visible signs and symptoms by age 10 and affects all people with DMD by age 18.

Additionally, people experience breathing issues by age 12, when their lung function begins to decrease. Several orthopedic issues like curvature of the spine and other spinal deformities further limit mobility. As the disease progresses, most people with DMD are wheelchair-bound by ages 12-15 and have a significantly decreased life expectancy due to heart and lung issues. There is currently no cure for DMD. Treatments are focused on improving function and quality of life through steroids, noninvasive respiratory support and periodic management of acute symptoms.   

How is DMD diagnosed? Children with DMD typically present with symptoms between 3 and 5 years of age. The diagnosis is confirmed with a genetic test.  

What is the underlying cause of disease? DMD is an X-linked recessive disorder caused by mutations in the DMD gene, which is responsible for producing the dystrophin protein. Dystrophin is a key part of a protein complex that maintains muscle integrity during normal activity and exercise. Mutations to the DMD gene prevent dystrophin protein production. This lack of dystrophin causes progressive muscle weakness and muscle death, inflammation and loss of mobility before adulthood and premature death. 

The Vertex Approach 

We are focused on inventing and researching genetic therapies aimed at treating the underlying cause of DMD. The cause of DMD has been known for decades and with tools like CRISPR gene editing, we now have a potential opportunity to address this devastating disease at its root cause.  

We are investigating multiple approaches to treating DMD by delivering CRISPR gene-editing technology to the muscles with a virus, AAV9, in order to achieve the precise changes in the targeted DNA. Specifically, we will investigate CRISPR gene-editing technology to restore dystrophin protein expression by reframing the mutated DMD gene that causes the disease. Due to the number of mutations that can cause DMD, our research consists of multiple different gene-editing programs to potentially address many of the disease-causing mutations. 

Pipeline

Duchenne Muscular Dystrophy (DMD)

DUCHENNE MUSCULAR DYSTROPHY

We are focused on inventing and researching genetic therapies aimed at treating the underlying cause of DMD. The cause of DMD has been known for decades and with tools like CRISPR gene editing, we now have a potential opportunity to address this devastating disease at its root cause.

We are investigating multiple approaches to treating DMD by delivering CRISPR gene-editing technology to the muscles with a virus, AAV9, in order to achieve the precise changes in the targeted DNA. Specifically, we will investigate CRISPR gene-editing technology to restore dystrophin protein expression by reframing the mutated DMD gene that causes the disease. Due to the number of mutations that can cause DMD, our research consists of multiple different gene-editing programs to potentially address many of the disease-causing mutations.

 

LEARN MORE ABOUT DUCHENNE MUSCULAR DYSTROPHY

News  

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