Skye, a nine-month-old baby with spinal muscular atrophy (SMA) type 1, is reaching new milestones every week and is “the happiest child” after being treated with Zolgensma, according to her mother Kasia.
“She is almost sitting, her head and neck are really strong, and she is reaching above her head,” Kasia wrote in a blog post on the Connecticut Children’s Medical Center website. “I have not seen any side effects from Skye’s treatment. Instead, all I see is my daughter is getting healthier and stronger.”
“The results are showing real promise,” Gyula Acsadi, MD, the neurologist who administered the gene therapy and has been following Skye at Connecticut Children’s, said in a press release. “The patient is doing well, thriving and gaining motor strength.”
SMA is caused by a faulty SMN1 gene, impairing the production of the SMN protein. Lack of normal, fully-functional SMN leads to progressive loss of motor neurons, specialized nerve cells controlling muscle contraction. In its most severe and common form, type 1, the symptoms typically appear within six months of birth
Kasia first shared concerns about her daughter’s hips at her one-month checkup. Soon after diagnosis, Skye became very sick and was admitted to the hospital for three weeks, starting on a medication to help improve motor function.
At seven months, Skye became the first child to receive Zolgensma at Connecticut Children’s shortly before its U.S. approval, as part of an extended access program sponsored by Novartis, the company marketing the therapy. The pediatric hospital is one of 17 medical centers in the U.S., and the only one in Connecticut, currently offering Zolgensma.
As a patient with SMA type 1 and within the age range approved by the U.S. Food and Drug Administration, Skye was the perfect candidate for Zolgensma, Acsadi told Kasia. The gene therapy, delivered via intravenous infusion, uses a modified viral vector (AAV9) to deliver a correct version of SMN1 to motor nerve cells and boost SMN protein production.
“I know that it was very time consuming for Dr. Acsadi to get approval in order to give Skye the gene therapy treatment, and we feel lucky to have him as Skye’s physician,” Kasia said.
The improvements seen with Zolgensma made Skye strong enough to receive treatment for a cold at home. “Luckily, we didn’t end up in the hospital during cold and flu season! We were even able to have friends visit, which would have been too dangerous if Skye weren’t receiving these treatments,” Kasia wrote.
But the benefits go well beyond, Kasia noted. “Like most children her age, she loves to explore her world physically. Skye will reach and touch, respond to sights and sounds, and especially enjoys playing with her four year old big brother, Julius. Without the treatment,” Kasia added, “I know Skye’s interactions with the world would be limited.”
Soon after Skye received Zolgensma, Connecticut Gov. Ned Lamont signed into law a bill to make newborn screening for SMA mandatory in the state, which will enable earlier diagnosis and treatment of SMA.
“This is a crucial step towards early and effective treatment for SMA … proved to be the most effective if started as early as in the newborn period,” Acsadi, division head of neurology at Connecticut Children’s, said in a press release. “A typical SMA patient, treated early, will be able to achieve normal developmental milestones rather than significantly decline if left untreated.”
Lesley Bennett, a volunteer patient advocate with the National Organization for Rare Disorders (NORD), said that “newborn screening, combined with early treatment, is the best chance we have to change the course of SMA for the next generation. We are thrilled that Connecticut has taken this important step.”
Kasia said that after going through her experience with Skye, she is “so happy” with Connecticut’s approval of this mandatory newborn screening.
Acsadi sees Zolgensma, combined with clinical expertise, holding “the promise to slow, and possibly halt, the progression of SMA.”
Kasia added: “The world of SMA is expensive, and I admit it is a struggle. However, when you see your child getting better, you see the future in brighter colors.”