When Jazmyne Harris was diagnosed with Friedreich’s ataxia at the age of 14, the rare, degenerative neuromuscular disease was considered untreatable and incurable. But six years later, Jazmyne’s doctor may be on the verge of changing that.
Mark Payne, M.D., a pediatric cardiologist with Riley Hospital for Children at Indiana University Health and an investigator at the Wells Center for Pediatric Research—Riley’s research wing—has developed a drug that uses a harmless part of the AIDS virus to carry a missing protein into the hearts of patients with Friedreich’s ataxia, restoring lost function.
The drug—TAT-Frataxin—has shown dramatic effects on mice with Friedreich’s ataxia, helping them live 50 percent longer, and it is on the path to clinical trials in humans as part of a National Institutes of Health (NIH) program focused on rare diseases.
“If it works, it would be a true game changer for those with Friedreich’s ataxia and their families,” Dr. Payne says. “With every year that goes by, these patients lose more muscle function and more heart function. Even if we can’t reverse the disease, we can at least stop it.”
Jazmyne, now 20, and her father, Virgil Harris, have been raising awareness about Friedreich’s ataxia since her diagnosis, starting a nonprofit organization called Jumpin’ for Jazz to raise money for research. The disease, which typically strikes in adolescence, affects fewer than 6,000 people in the United States, and only 20,000 worldwide.
“I cried in the beginning, but when I stopped crying, I started doing what the Lord has directed me to, and I started fighting,” Virgil says. While touring Dr. Payne’s lab with Jazmyne, he was overcome with gratitude for her doctor and his promising discovery. “I’m really excited,” said Virgil. “Six years ago we wished for this, and we’re here now. It’s awesome.”
Jazmyne, who lost her ability to walk last year, is now studying psychology and criminology at Indiana State University.
“The biggest adjustment in going to college has been accepting myself, I think,” she says. “In high school (at Indianapolis’ Bishop Chatard High School), I grew up with those kids, so they all knew me. Going to college, nobody knows me. I need to show them that I’m okay so they can be okay.”
Dr. Payne’s hope is that TAT-Frataxin will be approved by the FDA to advance to a phase one clinical trial for Friedriech’s ataxia patients within the next two years. Eventually, all newborns could be screened for the disease and treatment could start before any damage is done.
Meanwhile, Dr. Payne continues his research to determine if the same approach could be used to treat other diseases.
“I think it’s really important to realize that what I’m doing now had no clinical application whatsoever when I started,” Payne stresses. “All clinical applications initially start out as basic science, and funding that work is essential.”