Life-Changing New Gene Therapy For Duchenne Muscular Dystrophy

Many chronic illnesses of childhood have a genetic cause. The correct genetic code is necessary to make functional proteins that do important work in the body, such as making red blood cells or hormones. When the genetic code is altered so much that a necessary protein can’t be made or doesn’t function, chronic medical conditions such as sickle cell anemia or congenital hypothyroidism result. 

Texas Children’s Hospital has always been a leader in treating both rare and common congenital conditions in children and has been an early adopter of FDA-approved gene therapies as well as clinical trials in an effort to improve and prolong the lives of children. The Muscular Dystrophy Association Clinic at Texas Children’s has seen life-changing benefits from using a new gene therapy to treat Duchenne muscular dystrophy (DMD). 

What is Duchenne muscular dystrophy?

Like other genetic conditions, Duchenne muscular dystrophy results from problems with the production of a protein: dystrophin. Dystrophin protects muscles throughout the body from being damaged when they contract and relax. When the body is able to make a small amount of dystrophin, or a version of it that can do some of the necessary work, symptoms do not arise until adulthood. With DMD, no dystrophin is produced. As a result, children lose their ability to walk in their preteen years and often pass away before age 30.

How can gene therapy help children with DMD?

Elevidys^Ⓡ (delandistrogene moxeparvovec) is the only FDA approved gene therapy for any muscular dystrophy and can only be used for children age 4 years and older with DMD. To make Elevidys^Ⓡ, like many other gene therapies, the genetic code necessary to make a functional version of the missing protein is placed in a virus whose own genetic material has been removed. When the virus is injected into the body, it puts the genetic material for the functional protein in the body’s cells. Once the cells have the right code, they can make the necessary protein. 

            While gene therapy does not eliminate all DMD symptoms, it lessens the symptoms children experience, allowing them to be stronger for longer. Elevidys^Ⓡ has only been studied in children with DMD since 2018, so it is unknown if the medication will preserve a child’s ability to walk into adulthood or prolong a person’s life. However, children who have received the medication have been able to stay active and the effects of the one time infusion do not seem to wear off. 

A growing area of treatment

Other inherited conditions, such as sickle cell anemia, can be treated in a similar manner through gene therapy. Some use a virus in a manner similar to the DMD treatment. In some cases, a surgery is required to place the genetic material in the right place. All gene therapies, however, have the same goal — to increase the production of an essential protein that will improve a child’s symptoms. Many more gene therapies are in clinical trials with the hope that children with life-altering conditions like DMD will have a brighter future.

Learn more about the Genetics Clinic and the Muscular Dystrophy Association Clinic at Texas Children’s Hospital.