Jennifer Norman, M.D, a child neurologist at INTEGRIS Pediatric Neurology at Baptist Medical Center, is the first in the state to use the one-time gene therapy known as Zolgensma® on a local child with spinal muscular atrophy.

INTEGRIS Physician First in Oklahoma to Use Landmark One-time Gene Therapy on a Child with Spinal Muscular Atrophy

Jennifer Norman, M.D, a child neurologist at INTEGRIS Pediatric Neurology at Baptist Medical Center, is the first in the state to use the one-time gene therapy known as Zolgensma® on a local child with spinal muscular atrophy.

Makynlee CulbertsonWhat is Zolgensma?

Zolgensma was recently approved for the treatment of pediatric patients younger than two years of age with SMA with bi-allelic mutations in the survival motor neuron 1 (SMN1) gene.

It is designed to address the genetic root cause of SMA by providing a functional copy of the human SMN gene to halt disease progression with a single, one-time intravenous infusion. A one-time treatment with Zolgensma is intended to replace a lifetime of chronic therapy for pediatric patients with SMA.

“This treatment has truly created a paradigm shift for what was previously a uniformly devastating and fatal disease. SMA is essentially the ‘Lou Gehrig’s Disease’ of childhood,” Norman describes. “With early treatment, we can now give these kids a normal life. That was essentially unthinkable even just three years ago. It has truly revolutionized the practice of neuromuscular medicine.”

Who Does it Help?

Makynlee Culbertson is 17 months old and is one of Dr. Norman’s patients. On July 19, she became the first child to be treated in Oklahoma with Zolgensma gene therapy.

Her parents, Clinton and Shanna, are hopeful this will mean an improved life for their baby girl. “Makynlee was diagnosed with SMA when she was 7 weeks old,” says her mother Shanna Culbertson. “Since then, her treatments have consisted of spinal injections every four months. While she has seen great progress with that therapy and we are thankful for that drug, we are looking forward to never having to do another injection again.”

“Makynlee has been on a different, more invasive treatment called Spinraza. This treatment requires three lumbar punctures per year for medication infusion, to continue for the patient’s lifetime,” explains Dr. Norman. “It is very effective and has provided Makynlee with the opportunity to do things that would have never been possible for children with this disease in the past. For example, she is able to sit on her own, breathe without a ventilator, and she has started working on standing with assistance with physical therapy. Prior to Spinraza, children with this severe form of SMA typically didn’t survive past 12-18 months of age.”

Norman adds, “What’s exciting about the new therapy Zolgensma, is that Makynlee can now have a single IV infusion that will produce the protein she is missing so she will continue to get stronger throughout her life and will no longer have to endure three painful lumbar punctures a year, nor the associated complications that can go with them.”

INTEGRIS is known for its ‘most challenging healing’ and hospital leadership believes this to be even more confirmation of that. “This is a great example of how physicians, hospitals, pharmaceutical companies, insurers and others along the health care value chain can come together and truly make a difference in people's lives,” says Tommy Ibrahim, M.D., Executive Vice President, Chief Physician Executive at INTEGRIS. "We are beyond thrilled for beautiful Makynlee and the Culbertson family to have their prayers answered and I could not be more proud of Dr. Norman for being the first physician in Oklahoma to bring new hope to families dealing with this heartbreaking disease.”

What is Spinal Muscular Atrophy?

SMA is a severe neuromuscular disease characterized by the loss of motor neurons leading to progressive muscle weakness and paralysis. The genetic root cause of SMA is an SMN1 gene that is missing or not working properly. When this main gene is missing or not working properly, the body cannot make enough survival motor neuron protein, which is needed for motor neuron cell survival. Motor neuron cells are responsible for communicating with the muscles and telling them to work properly. A person is born with a certain amount of these cells.

Without enough SMN protein, motor neuron cells eventually stop working, lose all function and die. As a result, things many of us take for granted, like breathing, eating, speaking and lifting the head, become difficult. Once motor neuron cells die, they cannot be brought back.

SMA is an autosomal recessive disorder, meaning a person must inherit one copy of a nonworking or missing gene from each parent to have the disease. The symptoms of SMA may include small or weak muscles, difficulty breathing, feeding issues, lack of reflexes, lack of motor development, the inability to sit or a soft cry.

What is the Research?

Two separate clinical trials on Zolgensma have garnered positive results. Many of the children studied did not need permanent breathing support, or could sit without help for at least 30 seconds. Neither was possible before the therapy.

What is the Cost?

Cost is the main criticism of the therapy. The one dose costs roughly $2M. “It is definitely crazy expensive,” admits Norman. “But ultimately, over the course of a child’s life, the onetime cost is actually a substantial savings compared to what insurance companies and families would spend for the intensive medical needs children with this disease would otherwise require.” The 10-year current cost of chronic SMA therapy can often exceed $4M and the therapy stops working if treatment is stopped. “In addition to overall cost savings, there is also a huge quality of life benefit to the drug, which really can’t be described with a dollar amount”, Norman adds.

The Culbertsons know they are lucky, because their primary and secondary insurance plans will cover 100 percent of the therapy, but they say even if that wasn’t the case – they would have done it anyway. “You can’t put a price on your child’s life,” declares Shanna Culbertson. “As a parent, you will do whatever is necessary to give your child her best possible chance.”