Promising Therapy for Fatal Genetic Diseases in Children nears Human Clinical Trials

Auburn University College of Veterinary Medicine, UMass Medical School to test gene therapy treatment for Tay-Sachs and Sandhoff diseases

Researchers at Auburn University College of Veterinary Medicine and UMass Medical School are nearing human clinical trials on a genetic therapy for two rare neurological diseases that are fatal to children.

The scientists are seeking approval from the U.S. Food and Drug Administration, or FDA, to test a gene therapy treatment for Tay-Sachs and Sandhoff diseases, genetic disorders in a category known as lysosomal storage diseases.

Tay-Sachs and Sandhoff are inherited neurologic diseases that occur when genetic mutations prevent cells from producing enzymes needed to break down and recycle materials. Without these enzymes, the materials accumulate to toxic levels, slowly destroying the nervous system. The researchers are working on a gene therapy to correct the enzyme deficiency using adeno-associated virus, or AAV, vectors.

The average life expectancy for children with infantile Tay-Sachs or Sandhoff disease is only three to five years. There is currently no treatment. The gene therapy in development has shown promise in animal models of these diseases by extending lifespans by up to four times those of untreated animals.

“The proof-of-concept studies in affected animals are compelling, and the FDA provided a clear path of remaining experiments needed to seek approval for human clinical trials,” said Douglas R. Martin, a professor at Auburn University’s College of Veterinary Medicine. “We now need the funding to complete the studies.”

Dr. Heather Gray-Edwards
Dr. Heather Gray-Edwards, assistant professor and researcher at Scott-Ritchey Research Center.

The animal phase of toxicity studies necessary to demonstrate the safety of the gene therapy for Tay-Sachs and Sandhoff diseases has been completed with the support of the National Tay-Sachs & Allied Disease Association and the Cure Tay-Sachs Foundation.

“Too many children with Tay-Sachs and Sandhoff have died since we started this project. The time has finally arrived to push back on these diseases,” says Miguel Sena-Esteves, associate professor of neurology at UMass Medical School. “Our single-minded goal is to get a safe and potentially effective therapy to patients and their families as quickly as possible.”

“Hopefully, once the news gets out that we are this close to human clinical trials, fundraising efforts will be sufficient so we can complete the IND-enabling studies and proceed to human clinical trials,” said veterinarian Heather Gray-Edwards, an assistant professor at Auburn University College of Veterinary Medicine.

Additional funding of $1.2M is being sought to complete the safety studies, production of clinical grade AAV.

For more information about the study or to support funding, contact: Janet McCoy, Auburn College of Veterinary Medicine, 334-844-3698,, or Sarah Willey, UMass Medical School, 774-284-0186 (

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About the Auburn University College of Veterinary Medicine

The College of Veterinary Medicine is the South’s oldest and nation’s seventh oldest veterinary medical program, celebrating 125 years. The College prepares individuals for careers of excellence in veterinary medicine, including private and public practice, industrial medicine, academics, and research. The college provides programs of instruction, research, outreach, and service that are in the best interests of the citizens of the state of Alabama, the region, the nation, and the world. The Scott-Ritchey Research Center is dedicated to advancing companion animal and human health through research.

About the University of Massachusetts Medical School

The University of Massachusetts Medical School (UMMS), one of five campuses of the University system, is comprised of the School of Medicine, the Graduate School of Biomedical Sciences, the Graduate School of Nursing, a thriving research enterprise and an innovative public service initiative, Commonwealth Medicine. Its mission is to advance the health of the people of the Commonwealth through pioneering education, research, public service and health care delivery with its clinical partner, UMass Memorial Health Care. In doing so, it has built a reputation as a world-class research institution and as a leader in primary care education. The Medical School attracts more than $240 million annually in research funding, placing it among the top 50 medical schools in the nation. In 2006, UMMS’s Craig C. Mello, PhD, Howard Hughes Medical Institute Investigator and the Blais University Chair in Molecular Medicine, was awarded the Nobel Prize in Physiology or Medicine, along with colleague Andrew Z. Fire, Ph.D., of Stanford University, for their discoveries related to RNA interference (RNAi). The 2013 opening of the Albert Sherman Center ushered in a new era of biomedical research and education on campus. Designed to maximize collaboration across fields, the Sherman Center is home to scientists pursuing novel research in emerging scientific fields with the goal of translating new discoveries into innovative therapies for human diseases.