URMC 1 of 3 sites in Phase 3 clinical trial for Duchenne Muscular Dystrophy gene therapy

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ROCHESTER, N.Y. (WHEC) — There is a new clinical trial underway at the University of Rochester that could dramatically change the future for boys with Duchenne Muscular Dystrophy (DMD). The children in Rochester are among the first in the nation to receive an experimental treatment for DMD.

Cheryl and Charles Prior are the proud parents of two little boys who are both full of heart and energy but when their youngest Charlie was 3, they noticed he wasn’t walking and talking like his older brother Noah did at that age.

“It took the physical therapist only a handful of times to meet with Charlie and she recognized that we missed something substantial with his development,” Cheryl recalled.

Specialists in Syracuse eventually diagnosed Charlie with DMD. DMD is a condition found almost exclusively in boys. Muscle weakness often appears at a young age and progresses rapidly leading to significant disability. Boys with DMD typically end up in a wheelchair by age 9 or 10 and the symptoms eventually spread to the heart and muscles responsible for breathing. Often, the disease is fatal by the time the individual reaches their 30s. An estimated 12,000 people in the U.S. suffer from the disease.

“It was crushing, it was despair… you know you feel like your life is over as you know it,” Cheryl recalled of the days and weeks after Charlie’s diagnosis.

“We were very emotional, it was a very trying, very stressful time until you get into the kind of the acceptance phase in your like ‘OK we gotta get to work on this now’” Charles said.

That’s when the Priors found the University of Rochester’s Golisano Children’s Hospital and Dr. Emma Ciafaloni’s team of DMD specialists.

“They make Charlie feel welcome they make them feel safe and because of that he is just brave and he’s cooperative,” Cheryl said.

Charlie is now one of a handful of boys in the world participating in Phase 3 of a clinical trial that has the potential to change the progression of his disease.

“This clinical trial is actually going to the root of the pathology of this disease… and we are just one of the very first handful of centers in the United States that has started the study,” Dr. Ciafaloni said.

The trial is for boys ages 4-7 with DMD, the goal is to enroll 120 patients total in the U.S. and Europe.

“This has been in the making for a very long time and so that’s the exciting part of this is really,” Dr. Ciafaloni explained, “we’re trying to replace the broken gene and make the protein that is missing unlike other treatment that we have that are more like may be symptomatic treatment.”

The muscle weakness associated with DMD occurs due to a genetic defect in muscle cells that impair the production of dystrophin, the new treatment consists of a single infusion that, via an associated adenovirus, delivers into muscle cells a separate and potentially functional “micro” version of the dystrophin gene that takes overproduction of the protein.

The Priors are very hopeful about Charlie’s participation in the trial.

“The word that comes to mind is time, right?… Progressive diseases have time associated with them and we want that time to be extended number one,” Charlies said.

But there is also the thought of what Charlie could be a part of for other boys who get the same diagnosis in the future.

“His work is going to create an opportunity for the next generation of boys to participate, it may be a full treatment option someday, this work is extremely important,” Charlies said.