What is GM1 gangliosidosis?
GM1 gangliosidosis is a member of a group of about 40 related disorders that result from dysfunction of lysosomal enzymes or related proteins. GM1 is a neurologic condition of children that is typically fatal by two years of age. An inherited disorder, GM1 progressively destroys nerve cells in the brain and spinal cord, and is a neurodegenerative disease much like Parkinson’s and Alzheimer’s. There is no cure or effective treatment available and it affects one in every 360,000 children.
Research for a Cure
For more than 40 years, Scott Richey Research Center in Auburn University’s College of Veterinary Medicine has researched GM1 gangliosidosis in felines, as GM1 also occurs naturally in cats. The goal of SRRC’s GM1 research is to find a cure for feline GM1I and, through research partners across the U.S., successfully apply similar therapies for application in humans.
One of the most successful experimental treatments found to date is gene therapy, using a non-harmful viral vector to produce missing enzymes, in this case beta-galactosidase. In feline trials at SRRC, it has successfully restored beta-galactosidase levels to normal, prevented storage of GM1 ganglioside, and quadrupled the lifespan of GM1 cats. Many treated cats are still doing well, survival benefit continues to increase.
The Scott-Ritchey Research Center is a state-of-the-art, interdepartmental and interdisciplinary research program at the College of Veterinary Medicine, Auburn University. Since its inception in the late 1960s, the Scott-Ritchey Research Center has been a pace-setter for research devoted to improving the health of companion animals.
From Cats to Humans
Current successful results in gene therapy with GM1 animals justify the next steps toward treatment in children. Auburn’s SRRC is currently working with medical researchers, extending the work of veterinary medical researchers to the human realm. To continue, more study is needed, including safety studies, federal trial approvals and ultimately, initiation of human clinical trials. The estimated costs to continue research to the clinical trial is $500,000.
Putting a Face to Research -- Porter
Porter Ross Heatherly was born on Sept. 14, 2012 to Sara and Michael Heatherly in Auburn, Alabama. Just four months later, Porter was diagnosed with the rare GM1 gangliosidosis. For SRRC researchers, Porter is the face of their research.
To learn about the Heatherly family, go to Porter's Facebook page: https://www.facebook.com/pages/Prayers-for-Porter/517582134952155
How You Can Help
To date, university and federal agencies have supported research into the GM1 exceeding $2 million; while federal funding will continue to be pursued, to move forward rapidly, private support is critical. Tax deductible donations can be sent to:
- Scott-Ritchey Research Center
- For/Memo: Research for Porter
- 1265 H.C. Morgan Drive
- Auburn University, AL 36849
- (334) 844-5951