Spinal muscular atrophy (SMA) is the number one genetic cause of death for infants. It leaves children without the ability to walk, talk, eat and even breathe. But through revolutionary research in gene therapy, Dr. Brian Kaspar is working to bring more effective, one-time treatment options to families worldwide, stopping the disease – not those diagnosed with it.
Dr. Kaspar begins working on gene replacement technology for motor neuron disorders, partnering with Dr. Kevin Foust.
Dr. Kaspar and Dr. Foust discover unprecedented data with an AAV that targets 90% of motor neurons in mouse models. They begin to focus on spinal muscular atrophy (SMA).
Dr. Kaspar and his team treat some of the first mice with gene replacement therapy and see extraordinary results.
Dr. Kaspar founds AveXis to produce and commercialize gene therapies worldwide.
The first human clinical trials are conducted with this therapy in SMA patients.
SMA type 1 therapy earns PRIME designation from the European Union.
AveXis undergoes FDA approval to distribute SMA type 1 therapy in the U.S.
Dr. Brian Kaspar
For Dr. Brian Kaspar and his team at AveXis, saving lives is all in a day’s work.
Dr. Kaspar is an innovator in the field of gene replacement technology – taking a cloned, intact gene and delivering it to patients who have diseases stemming from a missing or mutated gene.
Diseases like spinal muscular atrophy (SMA). Affecting babies from birth, SMA robs young children of the ability to walk, talk, crawl and eat. Most patients won’t live to see their second birthdays, and this tragedy echoes through families for life.
“To see SMA not only affect children but to see its toll on the parents, the grandparents, the aunts and the uncles,” says Dr. Kaspar. “These diseases spread throughout the family emotionally. And I think that’s something that keeps us grounded…to understand that we’re working for a true purpose.”
That purpose is eliminating SMA forever. Since 2004, Dr. Kaspar has been working on gene replacement therapy that can halt the disease, with clinical trials showing children walking, talking and living a full life at five years old.
“We saw some of the kids standing…most of the kids sitting unassisted, doing things that the textbooks would say they shouldn’t be able to do,” he says. “This is unheard of in the disease called SMA type 1.”
Unheard of and unprecedented due to the hard work, tenacity and singular mission of Dr. Kaspar’s team: to change lives and change textbooks.
After seeing these amazing clinical results, Dr. Kaspar faced a new challenge: getting this life-changing drug to market. To overcome the financial and regulatory hurdles of drug distribution, Dr. Kaspar thought outside the box, partnering with investors to create AveXis, a company aimed at getting therapies through the finish line to make a global impact.
“We took a different approach,” Dr. Kaspar says. “We were looking at the finish line, and that is distributing this globally and treating every single patient. That is our end goal, and until we get there, we will not rest.”
Today, Dr. Kaspar’s SMA therapy has achieved special designation in the European Union and is currently undergoing FDA approval in the U.S. What’s more, additional research shows similar gene therapies are yielding extraordinary results with other motor neuron diseases like Rett syndrome. These breakthroughs are giving new hope to families around the globe.
Due to Dr. Kaspar’s vision, thousands of people will potentially feel the impact of life-saving treatments. And the medical research community can be encouraged to keep looking for the next cure around the corner.
“Don’t just do the simple experiment,” says Dr. Kaspar. “Don’t do the thing that seems most obvious. Relish the potential to make a huge impact.”
Dr. Brian Kaspar