WVU Medicine Children’s helps family access critical gene therapy

MORGANTOWN, W.Va. – When Brittany and Chris Nix, of Fort Gay, had their son, Oliver, they didn’t expect him to be born with a disease that would prevent him from being able to walk, eat, or breathe. Thanks to a routine test given to all babies in West Virginia and 17 other states and a life-saving treatment given at WVU Medicine Children’s, Oliver has a better chance to live a normal life.

“When Oliver was born, he was sent to the NICU because he was having trouble breathing,” Brittany Nix said. “When his newborn tests came back, the doctors told us he had prescreened for spinal muscular atrophy. We were lucky to have him when we did because the test is so new. If he had been born two weeks earlier, he wouldn’t have been screened.”

Spinal muscular atrophy (SMA) is a genetic condition caused by a mutation in the survival motor neuron gene 1 (SMN1), which regulates the production of the nerves that control the muscles. Without a properly functioning copy of this gene, the nerve cells can’t function properly and eventually die. This leads to debilitating, and sometimes fatal, muscle weakness. 

“SMA develops in a neuroprogressive nature,” Sara McGuire, M.D., WVU Medicine Children’s pediatric neurologist, said. “This means that over time, you continue to decline. It’s a disease that causes the loss of motor neurons. Motor neurons help your brain communicate with your nerves and muscles in order to make you move. Patients with SMA have a loss of a gene that supports those motor neurons, and when that gene is not there, slowly over time, the motor neurons die. Eventually, as the motor neurons continue to die, you lose ability to control your muscles and eventually to move them altogether.”

According to Cure SMA, a nonprofit organization that funds and directs research on SMA, this condition affects approximately 1 in 11,000 births, and about 1 in every 50 Americans is a genetic carrier. It can affect any race or gender and is the number one genetic cause of death for infants. It does not affect the ability to think and learn.

There are three FDA approved treatments for SMA, but Zolgensma is the only available gene therapy. It is used to treat children under the age of two and requires only one dose. 

“Gene therapy works by packaging the gene that the body is missing and delivering this gene to the motor neurons to replace it,” Dr. McGuire said. “The gene is packaged inside a protein that is delivered to the motor neurons in the body. The neurons pick up this gene, stopping the loss or death of the existing motor neurons.”

After receiving the positive prescreening result, Oliver was transferred to WVU Medicine Children’s for further testing to confirm the diagnosis. 

“The doctors at WVU Medicine Children’s discussed Oliver’s diagnosis with us and went over his treatment options,” Chris Nix said. “We decided to go with Zolgensma because it seemed like the best option.”

Chris Nix says the most difficult part of the process was working with insurance to have the treatment approved because each dose costs $2.1 million. Ultimately, insurance was able to cover the cost of the treatment for the Nix family. Oliver received a dose of Zolgensma in September at one month of age. WVU Medicine Children’s has delivered genetic therapy to three babies with SMA since the treatment was approved by the FDA.

“Oliver’s condition was captured very early because of his newborn screening,” McGuire said. “When he came to us, he looked like a normal baby and had no symptoms. His neuromuscular exam was completely normal, and he continues to look good after receiving the gene therapy.”

According to Brittney Nix, Oliver is a happy, talkative baby. He has had very few side effects of the treatment.

“He is growing really well and starting to hit his developmental milestones,” Brittany Nix said. “He’s lifting his head during tummy time and able to support his weight when we stand him up on our laps. He’s a little more chunky than normal because of the steroids he’s on, but he’s doing great.”

Gene therapy for spinal muscular atrophy has a high success rate, but it isn’t necessarily a cure. Patients who receive gene therapy early have a better chance of developing normal motor, pulmonary, and respiratory function than those who didn’t. The therapy doesn’t cause the damaged or dead neurons to repair, meaning the damage that has been done is permanent. 

“At this point, he's still so young,” McGuire said. “He doesn’t have any symptoms, but he might not have if we hadn’t known. Time will tell how great he will do, but if he does as well as the studies are showing, he’ll do great. It is likely he will be able to sit up, roll over, or even walk when he might not have based on his genetic tests.” 

Oliver’s parents say they are hopeful that Oliver will grow up with minimal, if any disability. 

“We’re glad we were able to catch this so early and get him treatment so soon,” Brittany Nix said. “We’re really grateful to the medical team that did his newborn screening and to the team at WVU Medicine Children’s for being so kind and attentive while they took care of him. We couldn’t ask for better doctors or nurses to take care of our son.”

For more information on WVU Medicine Children’s, visit Childrens.WVUMedicine.org.