What you need to know
Joseph M. Sanzari Children’s Hospital at Hackensack University Medical Center became the first hospital in New Jersey to deliver a new, life-saving treatment for spinal muscular atrophy (SMA) Type 1.
Spinal Muscular Atrophy (SMA) Type 1 is a progressive genetic neuromuscular disorder that affects infants and can result in death within a year of diagnosis if left untreated.
The treatment — which involves a one-time, one-hour intravenous (IV) infusion of a new drug called Zolgensma — was given to a 20-month-old child with SMA Type 1.
Details about Spinal Muscular Atrophy
SMA occurs when the survival motor neuron 1 (SMN1) gene is missing or not working properly and does not provide the body with enough SMN protein, which is essential to muscle control and movement. A lack of SMA protein affects the body’s motor neuron cells and causes debilitating, life-threatening muscle weakness that eventually takes away the ability to move, eat, and breathe. SMA Type 1 — the most common and most severe type — is typically diagnosed before one year of age and is the No. 1 genetic cause of death for infants.
Zolgensma, which received approval from the U.S. Food and Drug Administration (FDA) in May 2019, delivers a new, working copy of the SMN gene to motor neuron cells and restores SMN protein production. Zolgensma is approved for use in children with SMA Type 1 who are younger than two years old.
Clinical studies have shown that Zolgensma can slow or stop the progression of SMA Type 1, though each child’s response to Zolgensma varies depending on their age at diagnosis, the severity, progression, and complications of their condition, and other factors. Children who receive Zolgensma before two years of age often have a reduced need for breathing support and may be able to achieve motor milestones over time, including sitting, standing, and walking independently.
Zolgensma offers advantages over other medications used to treat SMA Type 1 because it is delivered through a one-time IV infusion that takes approximately one hour. Other medications used to treat SMA must be delivered every few months during a spinal injection, which is a more invasive procedure.
“From a genetics perspective, gene therapy is the ultimate therapy. This kind of treatment option is what families have been waiting for,” said Helio Pedro, M.D., a geneticist at the Joseph M. Sanzari Children’s Hospital. “The goal of gene therapy is to give a functional gene to a patient with a known genetic condition which is caused by a gene that is not working properly.”
Now that Zolgensma is FDA-approved and available at Hackensack University Medical Center, New Jersey children and families who receive an SMA Type 1 diagnosis can access this life-saving treatment close to home.