Treatment developed at AU for rare genetic disease to undergo first human clinical trial

Auburn University develops treatment for rare disease

AUBURN, Ala. (WSFA) - The first treatment developed at and licensed by Auburn University is going to a human clinical trial. Researchers say they hope to find an effective treatment for the rare, deadly genetic disease GM1 gangliosidosis.

Michael and Sara Heatherly lost their son Porter to GM1 in 2016. Porter had the first known case of GM1 in Alabama. He was diagnosed in 2013 at only 4 months old, and died in 2016.

“They gave us a list of what could happen and you’re like, ‘How is that going to happen to him?’” Sara Heatherly said.

“He had seizures, couldn’t see, couldn’t sit up on his own. It’s a hard thing to have to watch your child decline and regress so rapidly,” Michael Heatherly said.

Since then, the Heatherlys have worked to raise money for GM1 research.

Michael and Sara Heatherly lost their son Porter to GM1 in 2016.
Michael and Sara Heatherly lost their son Porter to GM1 in 2016. (Source: Auburn University)

GM1 is also found in cats, and until recently only animal studies had been conducted.

The human clinical trial is the result of a partnership between the Auburn University College of Veterinary Medicine and the University of Massachusetts Medical School.

“We thought if we could jump up from mice to cats, that’s a big scale up in brain size. About 50 to 100 times a bigger brain in a cat than a mouse. So then if you can make that jump, then it’s reasonable to expect that you can make the jump from cats up to humans,” said AU Professor and GM1 Researcher Doug Martin.

The trial is being done at the National Institutes of Health in Maryland. Martin is the lead researcher in the development of a gene therapy treatment for GM1.

“The first patient was treated in May and she is back at home now doing well," said Martin. "She has at least stabilized and she’ll be back to in NIH in another six weeks to get her first follow-up MRI.”

Martin started work to develop treatment for GM1 in 2005, but Director Emeritus of Auburn University’s College of Veterinary Medicine’s Scott-Ritchey Research Center Henry Baker began studying GM1 in cats decades ago.

“We had blind faith 50 years ago that maybe someday, somehow, this could be helpful for children,” said Baker. "I am blessed, because I saw the entire track of 50 years worth of work.”

Researchers say the human clinical trial is a significant milestone for GM1, which currently has no approved treatment.

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