SALT LAKE CITY, Utah. (Ivanhoe Newswire)— Gene replacement therapy. It’s a game changer when it comes to treating life-threatening illnesses. It can replace disease-causing genes with healthy genes, knock out a gene that’s not working right, or add a new gene to the body to help fight disease. To date, the FDA has approved four types of gene therapy including one that was given the OK just in time to save one little boy’s life.
No doubt about it, Cinch Wight is going to be a cowboy just like his dad.
“He loves the dog and the horses and the cows,” shared Cinch’s dad, Alex Wight.
But it has been a wild ride for this young bronco. A mandatory newborn screening test at birth revealed Cinch had spinal muscular atrophy or SMA.
Cinch’s mom, Amber Wight recalled, “That was the first time I’d ever even heard the term and what it was. And so, it was very scary.”
A neuromuscular disorder that can paralyze a baby in the first few weeks of life.
“My first thought was, he’s never going to be able to ride broncs or anything like that,” expressed Alex.
But just one day after Cinch was born, the FDA approved a new gene therapy.
“We were pretty excited to get a phone call from the department of health, you know, and have this baby here who we can use this treatment on after its approval,” explained Russell Butterfield, MD, pediatric neurologist at University of Utah Health and Intermountain Primary Children’s Hospital.
A critical gene in little Cinch was missing. Pediatric neurologist Russell Butterfield used an infusion to deliver a virus carrying a new copy of the gene into Cinch’s nerve cells.
“It’s like a delivery truck to deliver genes to where you want them to go. What that does do, is it stops the disease right where it is,” elaborated Dr. Butterfield.
Just a few years ago, most children born with SMA didn’t make it to their second birthday. Now?
“The hardest is holding a baby in one hand and holding that drug in the other and really feeling the weight of that. And understanding that how different this child’s life will be with this new medicine,” expressed Dr. Butterfield.
It took a lot of courage for this family to get this far. That’s why Alex wrote a book for his son. A true story about how real cowboys never give up.
“I wanted to let him know that no matter how hard it gets, as long as he keeps going, he’ll be all right,” shared Alex.
Doctors don’t know if the one-time infusion will last a lifetime or will have to be repeated and there could be a possible risk of inflammation to the liver that doctors will closely monitor. The gene replacement therapy costs 2.1 million dollars. Insurance paid for most of it, but Alex hopes sales from his children’s book will help pay the rest. You can find the book, A Cowboy and His Horse, at https://www.amazon.com/COWBOY-HIS-HORSE-ALEX-WIGHT/dp/B08CWG46ZX.
Contributors to this news report include: Cyndy McGrath, Executive Producer; Marsha Lewis, Field Producer; Rusty Reed, Videographer; Roque Correa, Editor.
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MEDICAL BREAKTHROUGHS
RESEARCH SUMMARY
TOPIC: A LITTLE COWBOY SAVED BY GROUNDBREAKING GENE REPLACEMENT THERAPY
REPORT: MB #4814
BACKGROUND: Spinal muscular atrophy, or SMA, is a genetic disease. SMA affects the part of the nervous system that controls voluntary muscle movement. Most of the nerve cells that control muscles are in the spinal cord. SMA is muscular because its primary effect is on muscles which don’t receive signals from these nerve cells. Atrophy is what happens to muscles when they are not active. It is also the medical term for reduction of the muscles. SMA involves the loss of nerve cells called motor neurons in the spinal cord and is classified as a motor neuron disease. It can have a great deal of variation in the scope and severity in different people.
(Source: https://www.mda.org/sites/default/files/publications/Facts_SMA_P-181.pdf)
GENE THERAPY: Gene therapy involves altering the genes inside your body’s cells to treat or stop disease. Genes contain your DNA which is the code that controls much of your body’s form and function, from making you grow taller to regulating your body systems. Therefore, genes that don’t work properly can cause disease. What gene therapy attempts to do is replace a faulty gene or add a new gene to cure disease or improve the body’s ability to fight disease. It has been used in treating a wide range of diseases, such as cancer, cystic fibrosis, heart disease, diabetes, hemophilia, and AIDS. There are risks when it comes to this treatment. A gene can’t easily be inserted directly into your cells, so it usually has to be delivered using a carrier called a vector. The most common vectors are viruses because they can recognize certain cells and carry genetic material into the cells’ genes. Researchers remove the original disease-causing genes from the viruses, replacing them with the genes needed to stop disease.
(Source: https://www.mayoclinic.org/tests-procedures/gene-therapy/about/pac-20384619)
NEW TREATMENT OPTION FOR SMA: Gene replacement therapy for SMA is called onasemnogene abeparvovec-xioi (brand name Zolgensma). Zolgensma is a new, working copy of a human SMN gene, and makes up for the missing or nonworking survival motor neuron 1 (SMN1) gene, which helps motor neurons work properly. The new gene tells motor neuron cells to produce more survival motor neuron (SMN) protein, which motor neuron cells need to survive and support muscle functions. This therapy is given as a one-time infusion into the vein using an IV and runs for 60 minutes. The child’s vital signs will be checked every 15 minutes and then hourly for two hours following the infusion. Clinical trials for SMA gene therapy have shown clear efficacy in young children with SMA type 1, resulting in a decreased need for respiratory support as well as improvement in motor skills. Research trials have also shown that the earlier children receive gene therapy for SMA, the better the results.
(Source: https://www.chop.edu/treatments/gene-therapy-spinal-muscular-atrophy-sma)
FOR MORE INFORMATION ON THIS REPORT, PLEASE CONTACT:
JULIE KIEFER
If this story or any other Ivanhoe story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Marjorie Bekaert Thomas at mthomas@ivanhoe.com
