Auburn University Researchers Make Breakthrough in Treating Rare Disorder, GM1

Gene Therapy Goes to Human Trial

Auburn University Researchers have made a breakthrough in treating a rare disorder called GM1.

GM1 is a rare disorder that only affects about 1 in 100,000 births.

It’s an inherited disorder where overtime it destroys nerve cells in the brain and spinal cord and only gives these kids 3 to 5 years to live.

There is no cure and no approved treatment

The researchers used gene therapy and first tested it on cats and started treating them with a gene therapy and it improved and extended their lives for years.

The testing that’s now been going on for 50 years has seen tremendous results and has been working toward a human trial.

“Nine years later we have animals that are still alive from the original treatment, are doing well and far surpassed my expectations. I hoped to able to expand their life span by 50% because there was nothing to help these animals besides gene therapy,” said Dr. Doug Martin, Professor and GM1 Researcher.

And in May of this year, a partnership with the University of Massachusetts and the National Institutes of Health, gene therapy went to human trial and was administered on a 10-year-old girl with GM1.

One dose of the gene therapy, and so far, the 10-year-old has experienced no complications.

“We had blind faith 50 years ago that maybe some day, somehow this could be helpful for children and I’m blessed I saw the tracking 50 years worth of work,” said Dr. Henry Baker, Director of Emeritus of Scott-Ritchey Research Center.

This is very special for Auburn University Researchers since meeting the Heatherly’s from Opelika.

Michael and Sarah lost their son Porter to the horrific disorder when he was just four-years-old.

Porter was the first known case of GM1 in Alabama and died in 2016.

Since his passing, the Heatherly’s have been working hard to raise funds for this research.

“We had a feeling that Porter wouldn’t get the treatment. But, we did everything we could to make people aware of it,” said Sarah Heatherly, Porter’s Mother.

Hearing the news that it went to human trial was exciting for the Heatherly’s.

“It just gave his life more purpose knowing that we can promote this research and use Porter’s life as an example and leave a legacy and I think it has,” said Michael Heatherly, Porter’s Father.

The 10-year-old will go back to the National Institutes of Health in 6 weeks for her first follow up MRI, but all are hopeful.

“All I was thinking about, when the 10-year-old was receiving the treatment, was Porter. He was the motivation to getting us there,” said Dr. Martin.

This is the first treatment developed at and licensed by Auburn University that’s gone to human clinical trial.

The Dean of  the Auburn University College of Veterinary Medicine said this is by far the greatest achievement the college has ever seen since it established 127 years ago.

 

Categories: Alabama News, Health