National Institutes of Health

Milestone Marks the First Patient 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 in Bethesda, Maryland.

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 Doug Martin, professor in the Department of Anatomy, Physiology and Pharmacology in the College of Veterinary Medicine and the Scott-R itchey Research Center, along with UMass Medicine School researchers Miguel Sena-Esteves and Heather Gray-Edwards, DVM, 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., a clinical-stage company developing innovative gene therapies.

The first patient received the treatment of AXO-A AV-GM1 (also known as A AV9-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.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.“

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

Martin was at the NIH in May 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.”

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 pat ients.”

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.“

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 greater purpose to work for a cure. To honor the family, which held fundraisers for several years to support the research, Porter’s likeness was incorporated in a creative identity for the center.