Auburn University research leads to gene therapy that provides hope for children with deadly disease

AUBURN, Ala., Dec. 3, 2019 /PRNewswire/ -- Auburn University research and the heart-wrenching experience of an Opelika, Alabama, couple are providing hope to children facing the deadly genetic disease, GM1 gangliosidosis.

The optimistic outlook is seen in an adorable 10-year-old girl named Jojo, who became the first patient to receive a gene therapy treatment, called AXO-AAV-GM1, during a human clinical trial this summer at the National Institutes of Health in Maryland. Auburn's College of Veterinary Medicine and the University of Massachusetts Medical School developed the treatment that has moved from helping cats with GM1 to hopefully helping children.

"Jojo is doing well and has experienced no major complications," said Dr. Doug Martin, professor in the Department of Anatomy, Physiology and Pharmacology in Auburn's veterinary college and the Scott-Ritchey Research Center. "Seeing all of the effort come together to help patients who have no treatment options today gives us great hope."

Auburn scientists for several decades have researched treatments to improve and extend the lives of cats affected by GM1. Martin is leading Auburn's effort, which was started by his mentor, Professor Emeritus Henry Baker.

To move the treatment toward human medicine, Martin developed a partnership with UMass Medical School researchers Drs. Miguel Sena-Esteves and Heather Gray-Edwards, an Auburn alumna—and they have worked collaboratively for 15 years, combining animal and human medicine studies to cure rare diseases that affect both animals and humans. In December 2018, the gene therapy was licensed to Axovant Gene Therapies Ltd., a clinical-stage company developing innovative gene therapies.

"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," Martin said. "We're hopeful that the treatment makes a real difference for patients and their families.

"The NIH is hoping to begin treating three or four more children in the next few months. 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."

The NIH clinical trial is led by Dr. Cynthia Tifft, deputy clinical director at the National Human Genome Research Institute. "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.

For Auburn graduates Sara and Michael Heatherly of Opelika, 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.

"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 College of Veterinary Medicine's Scott-Ritchey Research Center incorporated Porter's likeness in a creative identity for the center.

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SOURCE Auburn University