The world’s most expensive single dose of medicine — administered in record time — may make all the difference for a Baton Rouge newborn.
On Feb. 5, just four days after being born at Woman’s Hospital, Lexa Dennis became the youngest patient to ever receive Zolgensma, a $2.1 million gene therapy designed to ward off the devastating effects of spinal muscular atrophy. A rare neuromuscular disorder, SMA causes the loss of motor neurons and progressive muscle loss. It is the most common genetic cause of infant death, and only the most timely treatment can prevent lifelong disablement.
“This is huge. This is life-changing,” said Dr. Charlotte Hollman, the pediatric neurologist who treated Lexa.
That is evident in Lexa’s own family. Although only a month old, by the time Axel Dennis was diagnosed with spinal muscular atrophy in 2018, it was too late to spare him some of the disease’s devastating effects. Axel was underweight and showed low muscle tone at two weeks and was later diagnosed with SMA.
He began the drug Spinraza, administered by spinal tap, starting at 7 weeks. His mother, Andrea James, credits it with keeping him alive and preventing further deterioration. He would have to take Spinraza every four months for life, and since Zolgensma is a one-dose treatment, James got approval for him to receive it. But nothing can restore what SMA had already taken, so Axel cannot swallow and is not expected to be able to walk.
Because it is a genetic disorder, when James became pregnant again, she had an amniocentesis that determined the baby would have SMA. James and Woman’s Hospital wanted to administer Zolgensma as soon as possible in the neonatal intensive care unit. That required negotiations with James’ health insurance carrier over when the treatment could be administered and with Medicaid, without which James could not have afforded what her health insurance would not cover.
“Within two weeks, insurance is sometimes a problem, so I didn’t have high expectations of getting it on day four,” James said. “Dr. Hollman said, ‘Let’s get it done the first week. Let’s put her straight in the ICU and get her dosed before she turns a week old.’ My jaw dropped. Let’s do it! It was definitely her drive and the idea that we could do it, and Woman’s followed through to actually make it happen.”
Zolgensma is no ordinary medication. It arrived at the hospital frozen. The pharmacy staff had to be trained on how to get it ready to be administered, and nurses had to be trained on how to infuse it, said Dr. Kimberly Stewart, a neonatologist at Woman’s Hospital. The drug manufacturer, AveXis, said it had never been given to a baby just four days after birth, Stewart said.
According to drugs.com, drugmaker Novartis, which bought AveXis, attributes the gene therapy's exorbitant price tag to it "dramatically transforming the lives of families affected by this devastating disease and the claimed cost of bringing new drugs to market.”
SMA is caused by the absence of the main gene that creates the protein necessary for motor neurons to survive, Stewart said. Zolgensma, which is given intravenously, contains a replacement gene that causes an increase of that protein’s production. It does not change the patient’s genetic makeup.
“Her quality of life is going to be totally different than Axel’s,” James said. “She’s likely to walk. She’s likely to continue to breathe on her own. She’s likely to continue swallowing, eating on her own, definitely sitting up, crawling. She’s moving totally different already.”
“It’s limitless. It’s possible that she hits every milestone that would be considered a normal kid without a neuromuscular disorder would meet.”