On Sept. 12, Hackensack Meridian Health’s 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, 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.
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.
The child who received the first Zolgensma treatment delivered in New Jersey was diagnosed with SMA Type 1 by physicians at the Joseph M. Sanzari Children’s Hospital at Hackensack University Medical Center in June 2018, when he was six months old. As the youngest of three children, the child’s mother noticed that he was having movement issues and not developing as quickly as his older siblings. The child’s mother then expressed her concerns when he was admitted to the Pediatric Intensive Care Unit (PICU) for a respiratory illness. At that time, genetics and neurology were consulted. Testing was ordered and subsequently returned showing the patient had Spinal Muscular Atrophy.
Since his SMA diagnosis, the child has received treatment with another SMA medication. He continues to be sensitive to viral infections that have resulted in several hospitalizations and the need for temporary breathing assistance from a ventilator. Although the child is now able to breathe on his own and is not currently hospitalized, he still requires breathing support at home.
A Life-Saving Treatment
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.
“When it comes to SMA Type 1 diagnosis and treatment, it’s a race. The sooner a child is diagnosed and treated, the better chance they have of achieving gains in motor milestones,” said Felicia Gliksman, D.O., pediatric neurologist at the Joseph M. Sanzari Children’s Hospital at Hackensack University Medical Center.
Dr. Gliksman is part of the team who has been treating the patient since his initial diagnosis. She also works closely with other physicians — including Helio Pedro, M.D., a geneticist at the Joseph M. Sanzari Children’s Hospital — to develop Hackensack University Medical Center’s treatment protocol for administration of the drug.
Dr. Pedro said that New Jersey is close to adding testing for SMA to the Newborn Screening panel test as part of a state-mandated series of genetic tests that all infants born in the New Jersey are required to receive shortly after they are born. Pregnant women who receive care at Hackensack University Medical Center also have the option to receive genetic testing that can detect carrier status. Prenatal diagnostic testing that can detect SMA before a child is born is an option for individuals found to be carriers.
“An earlier diagnosis leads to better outcomes — and more options for treatment,” Dr. Pedro said.
Giving Hope to Children and Families
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.
“Before 2017, there were no medications available to treat SMA,” said Dr. Gliksman. “Just a few years ago, we had to tell parents that the life span for infants with SMA Type 1 was typically less than one year,” Dr. Gliksman said.
According to Dr. Gliksman, Zolgensma is changing the conversation that she and her colleagues are having with the parents of children who are diagnosed with SMA Type 1.
“Now, instead of having end-of-life conversations and telling parents to enjoy their child for as long as possible, we are having a different discussion,” said Dr. Gliksman. “Although children who receive Zolgensma will still need additional monitoring and support to stay healthy and achieve motor milestones, this medication will have a huge impact on quality of life — not only for the child, but for the entire family.”
“From a genetics perspective, gene therapy is the ultimate therapy. This kind of treatment option is what families have been waiting for,” said Dr. Pedro. “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.
“Delivering the first Zolgensma treatment in the state of New Jersey is a major milestone for families in our communities who are affected by SMA Type 1 — and for all of us at the Joseph M. Sanzari Children’s Hospital,” said Judy Aschner, M.D., clinical director of the Children’s Care Transformation Service at Hackensack Meridian Health and physician-in-chief of Joseph M. Sanzari Children’s Hospital. “It not only demonstrates the importance of science and research in finding new ways to treat life-limiting health conditions, but it is also evidence of our hospital’s commitment to bringing the most advanced therapies to New Jersey’s children.”
“At Joseph M. Sanzari Children’s Hospital at Hackensack University Medical Center, our goal is to provide all available treatment modalities for SMA and other genetic conditions,” said Dr. Pedro. “Having this treatment available at our hospital will allow us to not only provide leading-edge care for children with SMA, but it will also eliminate the burden, expense, and stress that travel can place on the family during a difficult time if the treatment was not available locally.”
As research continues into new types of gene therapy treatments, Dr. Pedro said that Hackensack University Medical Center physicians look forward to remaining at the forefront of patient care.
“Hopefully, the future will bring more available therapies for all types of genetic conditions — and we are looking forward to being able to offer those pioneering treatment options to our patients,” said Dr. Pedro.
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