One little bottle of liquid made possible by one man at USC will make a big difference for thousands of children suffering from a worldwide disease.
His name is Chien-Ping Ko and he's a neuroscientist at USC. For years, he labored in obscurity in a lab at the USC Dornsife College of Letters, Arts and Sciences, searching for a solution for spinal muscular atrophy (SMA), a rare and often fatal genetic neurodegenerative disease affecting muscle strength and movement in children. His research proved critical to a new drug, which was recently approved by the U.S. Food and Drug Administration.
The drug, Evrysdi (risdiplam), is a breakthrough remedy, much cheaper and easier to administer than existing options. It is only the third therapy -- and the first oral drug -- approved to treat SMA patients 2 months of age and older, according to the FDA. About 6 million Americans, or about 1 in 50 people, carry the defective gene for SMA. If two carriers produce a child, the odds are 25% that their offspring will be affected. The disease affects about 1 in 6,000 to 10,000 live births worldwide. SMA is the leading genetic cause of infant death.
For Ko, 72, the achievement marks a fantastic finale for a scientist who will retire next year after four decades at USC. For the unassuming and unsung professor, it's a moment of deep satisfaction that he hopes will inspire students to pursue science careers.
Chien-Ping Ko's commitment to research inspires USC colleagues
Of course, Ko downplays his role and credits many collaborators. "It takes a whole village to get to this result," he said. "I've just been fortunate to be in the right place at the right time."
It takes a whole village to get to this result.
Chien-Ping Ko
Nonetheless, his colleagues at USC Dornsife say he played a key role in the preclinical research. He solved the genetic riddle of why muscles and nerve connections fail in some children, which renders them unable to move, swallow or breathe and often leads to death.
Using animal models, Ko and lab members showed the loss of synapses in some muscles. His lab showed drug companies how to replicate the technique so that they can develop more effective drugs with the right dose for correcting nerve connections for each muscle.
"He is very unassuming and quiet and works in the background," said Stephen Bradforth, divisional dean for physical sciences and mathematics at USC Dornsife. "He's old school and gets the work done in the trenches, pushing and pushing. His work is about fundamental science that translated to produce a remedy for childhood disease. I take my hat off to him."
Said David McKemy, head of USC's neurobiology section: "It's very rare for a scientist to do so much foundational science and preclinical work with cells and lab animals and genetics and see it through to the end. Few scientists ever achieve this."
New drug helps SMA patients move, breathe
One day, Ko came face to face with a family from Kansas that was affected by the disease. They came to his lab at USC and the mother brought one of her two daughters, both of whom suffered from SMA. Ko showed them how his lab helped treat the disease in mice.
"The children were in wheelchairs and they couldn't move very well. The mother said, 'If we could help them just comb their hair, that would be a big relief.' I didn't even think about such a simple thing, how one minor improvement could make such a big difference," he said.
While the treatment he helped develop is not a cure, it can help SMA patients gain greater locomotion. For example, the FDA reports dramatic improvements. After one year of treatment, 41% of infants were able to sit independently for more than five seconds; after nearly two years of treatment, 81% of infants were able to live without permanent ventilation. For older patients up to 25 years, the FDA reports more than an eightfold improvement in motor function.
Moreover, the new treatment comes in liquid form that a patient takes for life and costs much less than existing treatments, which involve spinal cord or intravenous injections. It's the first orally administered drug for SMA.
Retiring scientist encourages students to look beyond medicine
An immigrant from Taiwan, Ko recalls members of his family having stomach ulcers that required surgery, which piqued his interest in biology. He studied neuromuscular connections for 40 years and shifted his focus to SMA in the past decade. He came to USC for its acclaimed neuroscience program, the opportunity to partner with private enterprise and an emphasis on translational medicine.
"It's been a very satisfying and rewarding experience -- especially at my retirement -- to see all my accumulated research experiences and to see how important basic science is in developing new therapies," Ko said.
I hope my story inspires students to get into science.
Ko
Partners in the drug development include his lab members, Zhihua Feng and Karen Ling, and colleagues at the SMA Foundation, PTC Therapeutics and Roche. His research was supported by the National Institutes of Health, SMA Foundation, Cure SMA, the Muscular Dystrophy Association and the Dhont Family Foundation.
As Ko prepares to retire, he looks forward to the impact his students can make. Having worked with partners to move the new drug to market, he appreciates the importance of not only basic science research but people trained in science who work in other fields.
"I hope my story inspires students to get into science," he said. "And while this all starts with basic research, it really does take a village of people. Science students need to learn social skills and communications and consider ways they might also use their science skills in other fields, like law, business, government or nonprofit groups. To students, I advise you not to limit yourself to only medicine."
