PHILADELPHIA (CBS) — A new gene therapy treatment is being tested at the University of Pennsylvania to treat a rare kind of muscular dystrophy. It’s progressive and strikes mainly boys. One Philadelphia patient has a special interest in it.
Inside the Penn lab that’s working on a breakthrough treatment for Duchenne muscular dystrophy, Yuva Gambhir is an unofficial patent ambassador.
“You really get an understanding of what’s going on,” the 18-year-old said.
Gambhir has DMD, which is caused by a gene mutation that stops the production of a muscle-building protein.
“Sometimes it’s hard because I remember what it was like to be able to walk and keep up with other kids physically,” Gambhir said. “While it does create a lot of challenges, I feel like I’m good at adapting.”
The Penn researchers are developing a first-of-its-kind gene therapy that replaces the missing protein without trigger a destructive immune response.
“It’s a fulfillment of a lifelong dream,” Dr. Handsell Stedman said.
Stedman is the lead researcher, and it’s personal. Two of his brothers died from DMD.
“We’re not going to stop until we get closer to something that resembles a cure,” Stedman said.
Leon Morales, a Ph.D. student at Penn and co-author of the research, has a milder form of the disease.
“It’s such a proud moment for me and my family,” Morales said.
The gene therapy has so far been tested in animals. Now, they’re hoping for approval from the FDA for the next step in patients.
“Our vision for this is that you have an early diagnosis, in other words before the kids are even symptomatic. And then with a single injection with something like this — downstream version if you will of this — that they never ever, ever develop a single symptom of the disease,” Stedman said.
The research is too late for Gambhir, but he’s grateful it could someday help others.
“It’s really showed me the effort scientists are putting into making technologies and drugs that can really be of benefit,” Gambhir said.
This weekend, there will be a benefit for DMD called Blingo introduces Napa in Philadelphia. For more information on the event, click here.