A $1.4 million dollar donation to the University of Massachusetts Medical School will help to fund research into a gene therapy for Tay-Sachs disease as it transitions from pre-clinical to early human trials. The donation was made by the Blu Genes Foundation, which is dedicated to developing gene therapies for rare genetic diseases. You can read about the news in more detail here, at Blu Genes’ website.
About Tay-Sachs Disease
Tay-Sachs disease is a genetic neurological condition with three variants: infantile, juvenile, and late onset. Life expectancy varies depending on the variant and between individuals, but babies with the Classic infantile type often do not survive past the age of five. Tay-Sachs is a type of lysosomal storage disorder caused by a lack of the Hex-A enzyme, which plays an important role in breaking down waste products. As a result, GM2 waste builds up in the brain, causing damage. Sandhoff disease another genetic lysosomal storage disorder that is very similar to Tay-Sachs in its symptoms and ages of onset, and you can read more about it here.
The Investigational Gene Therapy
Currently, there isn’t a cure for Tay-Sachs, but researchers are working at the University of Massachusetts are working on an investigational gene therapy that they hope will have the potential to help patients. The AAV gene therapy has shown promising results in animal models of Tay-Sachs and Sandhoff disease, with treated animals living for up to four times longer than untreated animals. Two patient organisations, the National Tay-Sachs and Allied Diseases Association and the Cure Tay-Sachs Foundation, have supported the project, together giving over $4 million to research.
The $1.4 million donation made by the Blu Genes Foundation will go towards a Phase I/II clinical trial of the gene therapy for patients with Tay-Sachs. Before beginning this clinical phase of research, the scientists need to have an Investigational New Drug application approved by the FDA. They’re currently working on their submission, and are hoping to receive approval early next year. If everything goes to plan, the clinical phase could begin as early as March 2019.