News and Press Releases

"Sialidosis is a lysosomal storage disease caused by mutations in the NEU1 gene, which encodes sialidase neuraminidase 1"

On this episode, we have returning guest Dr. Abby McElroy who previously was a guest on the Hypermobility Happy Hour discussing EDS in animals. Today, she returns with her principal investigator Dr. Heather Gray-Edwards to discuss the exciting new research they have been working on.

“Based on the results of this ongoing study, we are working on the continued development of AXO-AAV-GM1 and plan to engage the FDA to discuss further development, recognizing that there is currently no approved therapy available for GM1 patients.”

On today's episode, Nia Clark and Kerry interview Dr. Abby McElroy, Doctor of Veterinary Medicine about EDS in many different animals. Dr. McElroy has an EDS-like syndrome herself and her work focuses on the research and treatment of animals with EDS. Dr. McElroy received her bachelor’s degree in neuroscience from Smith College, her DVM from the Cummings School of Veterinary Medicine at Tufts University, and her Master of Science degree from Michigan State University College of Veterinary Medicine.

“We are excited to see a novel treatment being developed for MSUD. Lifelong dietary therapy and episodic hospital management are tedious and difficult, and do not uniformly protect affected individuals from the most life-threatening complications of the disease. Currently, liver transplantation is the only alternative treatment, but is not available in all clinical contexts and entails additional risks of surgery and chronic immune suppression. There is a pressing unmet need for safer, more effective, precision therapies to treat MSUD. At the CSC, we look forward to collaborating with the UMMS and ASC Therapeutics teams to move MSUD gene therapy into clinical trials, creating new hope for patients and their families.”

There is no cure or treatment for this disease. The project will test AAV vectors that encode for Neu1 expression in animal models to restore Neu1 expression and normal function. Dr. Gray-Edwards and Dr. Esteves have previously brought AAV gene therapies to clinical trials, including a Tay-Sachs/Sandhoff clinical trial.

Alissa, diagnosed with the rare and fatal genetic disorder called Sandhoff disease, was the first clinical trial participant to receive AXO-AAV-GM2 in the Phase I/II trial run by Sio Gene Therapies. The child, who is 16 months old, received the treatment in January at UMass Chan Medical School’s clinical partner, UMass Memorial Medical Center.

UMass Chan Medical School Dean Terence Flotte this week shared at a conference what could be landmark news about a terrible genetic disease: Two young patients with Tay-Sachs disease showed no ill effects from a new gene therapy that aims to correct the defect at the heart of the disease.

Today’s exciting clinical results from the AXO-AAV-GM2 program are the first reported evidence for potential disease modification in Tay-Sachs disease, and suggest an opportunity for gene replacement therapy to improve outcomes for children with this devastating condition,” said Dr. Gavin Corcoran, chief R&D officer at Axovan.

A new Voices of UMassMed podcast highlights the progress being made at UMass Chan Medical School in developing gene therapy for Tay-Sachs disease. Tay-Sachs is a rare, genetic degenerative disease that destroys nerve cells in the brain and spinal cord. Few children with Tay-Sachs will reach their fifth birthday. 

Axovant Sciences (NASDAQ: AXON), a clinical-stage company focused on innovative gene therapies for neurological and neuromuscular diseases, today announced that it has licensed exclusive worldwide rights for the development and commercialization of two novel gene therapy programs to address GM1 gangliosidosis and GM2 gangliosidosis (also known as Tay-Sachs and Sandhoff diseases) from the UMass Chan Medical School.

“This philanthropic investment in our Tay-Sachs research from the Blu Genes Foundation will allow us to take more than a decade of scientific discovery into the clinic, where our novel gene therapy approach will directly impact patient lives,” Dr. Gray-Edwards said.