Auburn University is celebrating the first treatment developed and licensed by Auburn that has gone to human clinical trial.
Researchers at Auburn and the University of Massachusetts collaborated to work on a treatment for the neurologic disease known as GM1 gangliosidosis.
Doug Martin, professor and GM1 researcher, described the disease as “degenerative and progressive.”
“The kids are born, and they appear to be normal,” he said. “They develop normally for a little while, and then they start to regress. From that point on, it’s a long, slow regression until they die.”
The first Alabama child known to have GM1 was Porter Heatherly, born to Michael and Sara Heatherly in Opelika on Sept. 14, 2012.
“When he was born, to our knowledge, he was a perfectly healthy, happy baby,” Michael Heatherly said. “Everything was going well until he was a couple months old, and Sara started realizing that he wasn’t tracking objects well with his eyes and maybe a little bit delayed.”
After a series of tests, Porter was diagnosed with infantile GM1 in February 2013. The geneticist who diagnosed him told the Heatherlys she was not aware of any treatment they could try.
A few months later, the couple learned about the GM1 research being done at Auburn, and that one of the researchers was a familiar face: Doug Martin, who attends church with them at Auburn United Methodist.
Martin invited the Heatherlys to come to Auburn’s Scott-Ritchey Research Center so they could meet Porter.
“From that day on…I think our whole focus changed,” Sara Heatherly said. “We did not know, obviously, when the clinical trial would happen. We had a feeling that Porter probably would not be able to receive a treatment.
“But we had made a commitment to Dr. Martin and to all the researchers there that we were going to do everything we could to promote it, to talk about it, to make people aware. And that’s what we did.”
The couple also celebrated Porter’s birthday every month, knowing that their son may not live to be 2 years old. He died in 2016.
'There's a child out there now'
“From the time we found out about the research, when he was just 6 months old, it just gave his life more purpose, knowing that anything that we were able to do to promote this research and move forward, using his life as an example, was something that would leave a legacy. And I think it has,” Michael Heatherly said.
“And it’s really special to us to know that there’s a child out there now who’s receiving the treatment. And hopefully in the future, when people get the diagnosis, instead of the doctor saying, ‘Your child’s terminally ill; they have two year to live or four years to live,’ that (they’ll say), ‘Hey, there’s an option. There’s a clinical trial. There is a treatment that’s effective that could save your child’s life.’”
The recipient of the treatment in trial is a 10-year-old girl from the United States with a less-severe form of the disease than Porter had, Martin said. She was given the treatment in May via IV in her arm, and was scheduled to return to the National Institutes of Health six weeks later for a follow-up visit.
“Porter…has really been the inspiration for all the work since we first met him,” Martin said.
“I went to the first injection of the first patient at (NIH). All I was thinking about was Porter, as she was receiving her treatment, because he was the motivation to get us there.”
A cat tale
The GM1 research all started 50 years ago, with a cat named Donovan.
Henry Baker was working as an associate professor of comparative medicine at the University of Alabama when he received a call from an Auburn graduate who practiced veterinary medicine in Birmingham, asking if he would help make a diagnosis of an unusual neurological disease in a cat.
Donovan was a 7-month-old Siamese cat whose owner said he was a normal kitten until about 2 months of age, when he stumbled and began progressing in his neurological deficits.
Researchers determined that Donovan had something similar to Tay-Sachs disease, a rare disorder that destroys nerve cells in the brain and spinal cord, also known as GM2 gangliosidosis.
Donovan was the first documented case of GM1 gangliosidosis, a disease that occurs naturally in cats.
“I came back to Auburn University – I’m an Auburn graduate – to direct the Scott-Ritchey Research Center, and we had already established a substantial colony of cats that we were studying,” Baker said. “In addition to being given the tools, we were given Doug Martin, who was able to use the tools to make our progress to where we are today.”
Baker, now director emeritus for the research center, said he feels “exuberance” at a GM1 treatment being in human clinical trial.
“We had blind faith 50 years ago that maybe someday, somehow, this would be helpful for children,” he said. “I’m blessed because I saw the entire track, 50 years’ worth of work.”
Calvin Johnson, dean of the Auburn University College of Veterinary Medicine, said an important mission of the college is to understand animal diseases to the point that similarities between animal and human diseases can be identified.
“When we find those diseases in animals that are similar to a disease in humans, we can start to compare things and identify a point at which a disease is vulnerable,” Johnson said. “When we can identify a vulnerability, we can work and collaborate to find cures.
“The progress in treating GM1 gangliosidosis is probably one of the greatest achievements, research-wise, that this college has ever had in its 127-year history."