UTSW May Have Found a Cure for Duchenne Muscular Dystrophy

A breakthrough in gene research that could lead to a cure for one of the most devasting diseases that affects children.

Scientists in Dallas have found a way to fix the gene that causes Duchenne muscular dystrophy, a terminal disease that affects about one in 40,000 males.

Patient zero in the trial is Ben Dupree, a 24-year-old man from Highland Park who's hoping the science will save his life and the lives of others.

"I think it’s just a matter of time before something is out there and will benefit someone. It may or may not be me, but I could hope," said Dupree.

Duchenne muscular dystrophy, or DMD, is an inherited disease that affects the X chromosome of boys.

A gene mutation in his DNA prohibits his muscles from producing the dystrophin protein.

Without dystrophin, his muscles will continue to degernate and will eventually affect his heart and breathing muscles.

"I remember one summer, he was 7 and a half and I took the kids to Michigan.  I noticed that he was struggling to go up the stairs, using his arms to kind of compensate for the lack of leg strengh.  I mentioned that to the occupational therapist and she said you need to go back to the nuerologist," said Ben's mother, Debbie.

Two years later, she said he received the devastatating prognosis that accompanies a DMD diagnosis.

"The doctors were telling me that he wasn't going to make it to his 19th birthday. I just couldn't see this 9-year old being gone in 10 years," said Debbie.

Ben, however, has lived beyond expections, as his decline hasn't progressed quickly.

He's lost the ability to move his legs, but with daily stretching and medications, is able to stay active for as long as possible.

He uses a modified vehicle to drive to work and to school.

He graduated from Southern Methodist Univeristy with a degree in biochemistry and plans to attend graduate school for genetic counseling.

"I've noticed over the years, I've become weaker and it's harder to do things. I have less energy and have had to come to terms with it. I've kind of just try to focus more on what I can do and not what I can't do," said Ben.

The progression of the disease is inevitable, unless a team at UT Southwestern succeeds in finding a cure for DMD.

Ben is the first person to give a sample of his genes to Dr. Eric Olson, researcher at the Molecular Biology, Hamon Center for Regenerative Science and Medicine at UT Southwestern.

He has used what's called CRISPR genome editing to correct the DNA sequence in the dystrophin gene.

"You can think about DNA as billions of letters of DNA in every cell in the body. What CRISPR gene editing can do is it can find a typo, one single letter, that is erroneous and it can fix it," said Olson. 

Images show Duchenne muscular dystrophy cells barely contain dystrophin, but after the genetic treatment, almost all of the cells produce dystrophin again.

Olson has fixed Ben cells, in a dish, and has successfully stopped the disease in mice.

"There's no question as to whether this can work.  It can work.  There's no question about how it works. We know exactly how it works.  So now, we just have to see, can we scale it up efficiently and safely so that we can apply it to patients?" said Olson.

The technique is so promising, Olson receives emails and letters from families all over the world hopeful his research can help their loved ones.

"It has redoubled our eforts to try and work as fast as we can knowing how many patients could potentially benefit from this technology," said Olson.

He said ensuring the technology is safe to be used on humans could happen within a few years, but will it be perfected in time to save Ben?

"Yes, I do believe CRISPR will be a cure, or at least a treatment, if not a total cure. How long will it take? I dont know. Whether Ben will be able to receive a treatment? I don't know, but we have hope everyday," said Debbie.

If anything, Ben said the research has given purpose to his life.

"It gives me a sense that I have a place, that there's something greater that I'm helping to achieve," he said.

The gene editing technique can't restore muscle function but it can stop the disease in its tracks.

Olson believes children will be able to be cured at the onset of symptoms, once they've finalized the treatment.

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