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    What is Sandhoff Disease?

    Sandhoff disease is a rare fatal condition with an onset around 3-6 months of age. Known as a lysosomal storage disorder, it is caused by inherited changes in the HEXB gene. These changes lead to reduced amounts of the enzyme beta-hexosaminidase in the cell’s recycling centers and, consequently, a harmful build-up of a fatty substance called GM2 ganglioside that progressively destroys cells in the brain and spinal cord. Children affected by Sandhoff disease suffer from rapid deterioration of mental and motor functioning and have a reduced life expectancy.

 

Treatment Strategies

 

Gene Therapy Strategy for Sandhoff Disease

Although there is no specific treatment for Sandhoff disease at this time, there are several UMass labs—including the Sena-Esteves Lab, the Gray-Edwards Lab, and the Flotte Lab—that are all working on gene therapies for Sandhoff disease and other similar lysosomal storage disorders such as Tay-Sachs disease. For example, the Sena-Esteves Lab has developed new ways to deliver therapeutic levels of the enzyme missing in Sandhoff disease to the entire brain by injection of adeno-associated virus (AAV) vectors into specific structures in the central nervous system. This therapeutic approach was recently tested in a clinical trial at UMass Memorial Medical Center, with the first human patient with Sandhoff disease.

 

Sandhoff Disease Investigators

Miguel Sena-Esteves, Ph.D.

Associate Professor, Department of Neurology

Website

Heather Gray-Edwards DVM, PhD

Assistant professor of radiology

Website

terence flotte md

Terence Flotte, MD

Professor of pediatrics, Celia and Isaac Haidak Professor of Medical Education

Flotte Lab

Clinical Trials

At the Li Weibo Institute for Rare Diseases Research, our researchers and clinicians are dedicated to finding new treatment options for patients. Our clinical trials program is another way we continue to advance treatments and make new discoveries. If you or someone you know may be interested in a clinical trial, please subscribe for updates and you will be notified when we open up a new trial.