Finding a Cure for Spinal Muscular Atrophy, the Number One Genetic Cause of Infant Death

Finding a Cure for Spinal Muscular Atrophy, the Number One Genetic Cause of Infant Death

Rutgers researcher targets backup gene to reduce severity of muscle wasting disease

Chase with Legos
Chase Kopczynski building a New York City Architecture Lego.
Photo: Courtesy of Lorraine Kopczynski

'No parent wants this for their child. But every day we focus on what we have instead of what we don’t and it gives us hope
 – Lorraine Kopczynski

Six-year-old Chase Kopczynski is a happy child. He smiles all the time, loves school and depending on the day you ask wants to grow up to either be a doctor, architect or Lego engineer.  

Under normal circumstances such childhood characteristics would not be unusual. Chase, however, was born with a genetic neuromuscular disease that has left him in a wheelchair with limited strength in his legs, arms, hands and fingers – making everyday living for this kindergartner seem like a triathlon.

“We’ve taught him from a very young age that it is going to take longer for him to do some things so he is going to have to do them differently than others,” said his mother, Lorraine. “I think understanding this is the reason why he is such a positive little boy.”

Chase is among the 1 in 10,000 babies born each year with spinal muscular atrophy, known as SMA. The disease results in the deterioration of the nerve cells connecting the brain and the spinal cord to the body’s muscles. Eating, controlling bodily functions and even breathing for Chase and others with this debilitating disease can become an arduous chore.

Rutgers scientist Mike Kiledjian, chair of the Department of Cell Biology and Neuroscience in the School of Arts and Sciences, is one of a number of researchers looking for a way to treat the condition or cure the disease.

Mike Kiledjian
Rutgers researcher Mike Kiledjian
Photo: Nick Romanenko/Rutgers University
“It is quite sobering to see those with SMA and their families,” said Kiledjian, who recently received a $140,000 grant from Cure SMA, a patient advocacy group dedicated to funding basic research, to continue his work. “It drives you to do research in hopes of finding some treatment that will help.”

SMA is caused by a genetic mutation – inherited when both parents pass on the mutated gene – that prevents children like Chase from producing enough protein from the SMN1 gene and leads to the progressive wasting of muscles.

Kiledjian and other scientists believe a backup gene, SMN2, which produces a small amount of the protein, could be targeted for treatment. He and his laboratory team are working to find a way to increase the level of the protein produced by the backup gene so that it can takeover. Such a discovery, he said, could reduce the severity of the disease and enable patients to lead a more productive life.

“There have been major advances in the last few years and clinical trials are underway,” said Kiledjian. “But obviously, nothing is fast enough for patients and their families.”

Chase was diagnosed with SMA type 2 at 14 months. He can be placed in a sitting position but might never be able to stand or walk on his own. Unlike those with SMA type 1, the number one genetic cause of infant death in which children don’t usually survive past their second birthday, those with SMA type 2 live into their teenage years or young adulthood.

SMA type 3, the mildest form, usually doesn’t affect life expectancy. The rarest form, SMA type 4, usually surfaces in adulthood, leads to mild motor impairment and usually begins after age 35.

Chase collecting Easter Eggs
Chase in his "zoomy chair" on an Easter Egg hunt.
Photo: Courtesy of Lorraine Kopczynski
For Chase, even a mild cold can land the youngster in the ICU because of his weak respiratory system. To help him thrive, Chase has a G-tube placed in his tummy that delivers extra nutrition directly into his stomach to ensure that he is getting enough fluid and calories to grow. To treat his progressive scoliosis, Chase recently underwent back surgery for placement of adjustable growth rods connected to his ribs and hips that enable his body to remain upright as he grows taller. 

Chase’s father, Andrew, takes him to public school in Edgewater in a modified accessible van which allows him to transport his “zoomy chair” – a motorized wheelchair that gives Chase tremendous mobility and independence while at school.  He also has a health aide to help him through his day.

“He is very bright, social, outgoing and loves going to school,” Lorraine Kopczynski said about her son. “We keep him stimulated and are happy to see him happy.”

Still, she often begins and ends her day with thinking and hoping that there is a scientist who will find a way to replace the mutated gene that is causing the disease with a healthy one. If that wish is too lofty, she and other parents in her situation look to the discovery of medications that would provide their loved-ones with the physical strength that the disease has robbed from them.

“In our minds and hearts we want a cure,” she said. “No parent wants this for their child. “But every day we focus on what we have instead of what we don’t and it gives us hope.” 

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