A rare, progressive genetic disease that’s often fatal for infants and toddlers has been stopped its tracks by a groundbreaking gene therapy at Intermountain Primary Children’s Hospital.
Primary Children’s was one of the first in the United States to offer the gene therapy Zolgensma, used to treat spinal muscular atrophy (SMA) in children younger than 2 years.
Toddler Cinch Wight was diagnosed with SMA when he was just 6 days old, thanks to the Utah newborn screening program. Zolgensma was brand new at the time, and Cinch was the first patient at Primary Children’s Hospital to receive it.
“We got super lucky with the timing,” his mother Amber Wight said.
The gene therapy replaces the missing SMN1 gene with a new one. It stops the progression of SMA, which breaks down motor nerve cells in the spinal cord and affects muscle control and movement.
Before gene therapy, doctors could help improve quality of life in children with SMA, but could do little to prolong it, said Dr. Russell Butterfield, a pediatric neurologist at University of Utah Health and Intermountain Primary Children’s Hospital.
Now, gene therapies at Primary Children’s Hospital have helped children grow and develop almost as if they never had SMA, Dr. Butterfield said. Some children who received the earliest gene therapies are now school-aged – virtually unheard of before gene therapies.
“Gene therapy is transformational for children with SMA and their families,” Dr. Butterfield said. “It’s very rare in the medical field to find a cure for a genetic disease. To think that SMA could potentially disappear, like polio has, is remarkable.”
Cinch is now an active 20-month-old who loves to talk, ride his new rocking horse, play with his dog, and run as fast as he can.
“It’s amazing to see, I guess you could say,” Amber Wight said. “We are blessed.”
Cinch also loves spending time with his dad Alex, a rancher. Together, they ride horses near their family’s home in Moroni, Utah. Alex Wight was so inspired by Cinch’s journey he wrote a children’s book, “A Cowboy and His Horse.” He hopes someday Cinch will find strength in the story about always trying your hardest – and never giving up.
Cinch received gene therapy through the Primary Children’s Center for Personalized Medicine, which is a collaboration between Primary Children’s Hospital, Intermountain Precision Genomics and pediatric specialists and researchers at University of Utah Health.
Experts at the center are able to access a wealth of clinical, genetic and familial data at University of Utah Health and Intermountain Healthcare, as well as the newly announced HerediGene: Children’s Study, which will include the voluntary collection of 50,000 DNA samples of children, their parents and siblings who wish to participate at Primary Children’s.
This information will help researchers at the Primary Children’s Center for Personalized Medicine forge new connections between genetics and human disease, and apply those discoveries to benefit children worldwide.
The Primary Children’s Center of Personalized Medicine is part of Intermountain Healthcare’s $500 million promise to create the nation’s model health system for children. The model system multi-faceted plan and historic investment in children’s health to be shared by Intermountain Healthcare and community philanthropic support through an emerging campaign organized by Intermountain Foundation.
Additional information can be found at intermountainhealthcare.org.