NIH administers first clinical trial treatment for GM1 created by Auburn, UMass

Milestone marks the first patient with GM1 gangliosidosis treated with gene therapy

The first clinical trial of a gene therapy treatment created through a research alliance between Auburn University and the University of Massachusetts has been administered in a child at the National Institutes of Health, or NIH, in Bethesda, Maryland.

Researchers, from left: Dr. Heather Gray-Edwards, Miguel Sena-Esteves and Doug Martin at a GM1 event in Auburn last March.
Researchers, from left: Drs. Heather Gray-Edwards, Miguel Sena-Esteves and Doug Martin at a GM1 event in Auburn last March.

The NIH clinical trial is a significant milestone for GM1 gangliosidosis, a deadly disease with no approved treatment. The clinical trial treatment was originated and created at Auburn University’s College of Veterinary Medicine, where scientists for several decades have researched treatments to improve and extend the lives of cats affected by GM1 gangliosidosis.

The research alliance team of Dr. Doug Martin, professor in the Department of Anatomy, Physiology and Pharmacology in Auburn’s College of Veterinary Medicine and the Scott-Ritchey Research Center, along with UMass Medicine School researchers Drs. Miguel Sena-Esteves and Heather Gray-Edwards, have worked collaboratively for nearly 19 years, combining animal and human medicine studies to cure rare diseases that affect both animals and humans.

In December 2018, the gene therapy product was licensed to Axovant Gene Therapies Ltd. (Nasdaq: AXGT), a clinical-stage company developing innovative gene therapies.

The first patient received the treatment of AXO-AAV-GM1 (also known as AAV9-GLB1), an investigational gene therapy for the treatment of GM1 gangliosidosis at the NIH by Dr. Cynthia Tifft, deputy clinical director at the National Human Genome Research Institute and a leading expert in ganglioside storage disorders.

The first meeting of Scott-Ritchey research team and the Heatherlys in 2012.

To date, the 10-year-old patient has experienced no complications related to the intravenous administration of the vector and continues to be followed by physicians. The NIH has released protocol to treat additional children under the clinical trial; more information can be found online.

“GM1 gangliosidosis is a devastating disease in young children, for which there are no currently approved treatment options. The development of a safe and effective gene therapy for these patients would be a welcome advancement in the field of pediatric lysosomal storage disorders affecting the brain,” Tifft said.

“Treating the first GM1 patient with gene therapy is a huge milestone resulting from a long collaboration between Auburn, NIH and UMass,” Martin said.  “Seeing all of the

Dr. Henry Baker, standing, director emeritus of the Scott-Ritchey Research Center who played a pivotal role in early GM1 research, with Porter Heatherly, Dr. Doug Martin and one of the GM1 cats.
Dr. Henry Baker, standing, director emeritus of the Scott-Ritchey Research Center who played a pivotal role in early GM1 research, with Porter Heatherly, Dr. Doug Martin and one of the GM1 cats.

effort come together to help patients who have no treatment options today gives me a lot of hope.”

Martin was at the NIH earlier this month to watch the child receive the treatment. “The treatment is a testament to one parent’s refusal to give up, but speaks to the thousands of family members who have searched for a cure for this disease. The families have been the motivation of our research.”

He said being at the NIH to watch the treatment was a pinnacle moment in his life, professionally and personally. “This treatment is extremely promising because it has worked well in GM1 mice and cats, and it is delivered by a single IV injection that takes less than an hour. We’re hopeful that the treatment makes a real difference for patients and their families.

“As the trial progresses and more patients are treated, we’ll have a good idea of whether the gene therapy helps children as much as it has helped the animals. This is certainly what we’re hoping for.”

The Heatherly family–Sara, Michael and Porter–in 2012.

For Opelika, Alabama, residents Sara and Michael Heatherly, whose son Porter was the first known case of GM1 in Alabama and died in 2016, the knowledge of a treatment is one of mixed emotions.

“We are excited to know there is hope for the future of children diagnosed with GM1,” Michael Heatherly said. “We are thankful for everyone who has dedicated their time, resources and careers to move this treatment forward and to Axovant for bringing all of their work to life and making it a reality for GM1 patients.”

The Heatherlys spoke at an Auburn GM1 conference in March with other families who have loved ones affected by the disease, remembering the “horrifying” diagnosis in 2012. “But we found out about the research at Auburn, and it gave us hope,” Michael Heatherly said.

“As Auburn graduates, Sara and I were always a part of the Auburn Family, but through this research, we’ve developed an even greater family within the College of Veterinary Medicine community.

“We understood early on the research would not help Porter; but we wanted to help spread the word of the research and the progress that was being made.” The Heatherlys gave Auburn researchers a reason to hope, and work harder for a cure. To honor the family, which held fundraisers for several years to support the research, the Scott-Ritchey Research Center incorporated Porter’s likeness in a creative identity for the center.

Spring Auburn graduate Cassie Bebout also has a personal connection to the research at Auburn, where she worked in Martin’s lab. When she was 6 years old, her 9-year-old brother Jake died from GM1. The molecular biology major devoted her college career to helping find a possible cure for the disease. Her story is chronicled on Auburn’s website.

About GM1
GM1 gangliosidosis is a progressive and fatal pediatric lysosomal storage disorder caused by mutations in the GLB1 gene leading to impaired production of the beta-galactosidase enzyme. There are currently no approved treatments for GM1 gangliosidosis.

AXO-AAV-GM1 delivers a functional copy of the GLB1 gene via an adeno-associated viral (AAV) vector, with the goal of restoring β-galactosidase enzyme activity for the treatment of GM1 gangliosidosis. The gene therapy is delivered intravenously, which has the potential to broadly transduce the central nervous system and treat peripheral manifestations of the disease as well. Preclinical studies in murine and a naturally-occurring feline model of GM1 gangliosidosis have supported AXO-AAV-GM1’s ability to improve β-galactosidase enzyme activity, reduce GM1 ganglioside accumulation, improve neuromuscular function and extend survival.

Media contacts:
Janet McCoy, Auburn College of Veterinary Medicine, 334-844-3698 (
Preston Sparks, Auburn Office of Communications and Marketing, 334-844-9999 (