Medical Advances in Tay-Sachs Research
Gene Therapy
Gene therapy is currently the most advanced and promising therapy for patients with Tay-Sachs, and gives the most hope to those living with Tay-Sachs in the family.
The purpose of gene therapy is to try and restore the missing enzyme in those with Tay-Sachs. Scientists and researchers have used gene therapy to cure Tay-Sachs mice, and have improved the condition of Tay-Sachs cats (NTSAD, 2015). A clinical trial is in phase of being launched by the University of Massachusetts Medical School and Massachusetts general hospital.
This trial involves engineered viruses that use brain cells to produced copies of the beta-hexosaminidose enzyme that is absent in those with Tay-Sachs.
Cats with a feline version of Tay-Sachs usually live to about four months, however this model of gene therapy has kept these cats alive for an average of eighteen months. “This is the first time there’s a real prospect for a possible treatment for Tay-Sachs and similar genetic diseases that affect the brain,” says Susan Kahn, executive director of the National Tay-Sachs & Allied Diseases Association (NTSAD) (Goldberg, 2011).
The purpose of gene therapy is to try and restore the missing enzyme in those with Tay-Sachs. Scientists and researchers have used gene therapy to cure Tay-Sachs mice, and have improved the condition of Tay-Sachs cats (NTSAD, 2015). A clinical trial is in phase of being launched by the University of Massachusetts Medical School and Massachusetts general hospital.
This trial involves engineered viruses that use brain cells to produced copies of the beta-hexosaminidose enzyme that is absent in those with Tay-Sachs.
Cats with a feline version of Tay-Sachs usually live to about four months, however this model of gene therapy has kept these cats alive for an average of eighteen months. “This is the first time there’s a real prospect for a possible treatment for Tay-Sachs and similar genetic diseases that affect the brain,” says Susan Kahn, executive director of the National Tay-Sachs & Allied Diseases Association (NTSAD) (Goldberg, 2011).
Substrate Inhibition Therapy
This therapy uses small molecules that pass into the central nervous system and reduce the amount of subtrate, or excess GM2 gangliocide lipid that builds up. This kind of therapy has reduced and delayed symptoms of Tay-Sachs in mice; although these results cannot always be translated to human equivalency.
Substrate reduction therapy is not currently available for those with Tay-Sachs, and researchers are unaware if this kind of therapy will slow, stop, or reduce the signs and symptoms of Tay-Sachs.
A clinical trial has not yet began, and scientists are only testing on mice and primates with Tay-Sachs. (NTSAD, 2014)
Substrate reduction therapy is not currently available for those with Tay-Sachs, and researchers are unaware if this kind of therapy will slow, stop, or reduce the signs and symptoms of Tay-Sachs.
A clinical trial has not yet began, and scientists are only testing on mice and primates with Tay-Sachs. (NTSAD, 2014)
Stem Cells
Stem cells are unspecialized cells that are capable of giving rise to specialized cells. Stem cells can be used for therapies that include genetically altered cells that can produce the missing enzyme in the central nervous system.
Potential stem cell treatments are currently being tested on animals, and have been tested on spinal injuries in clinical trials. In a disorder very similar to Tay-Sachs, Sandhoff, promising and advanced work has been done in the mouse model using stem cells. (NTSAD, 2014)
Potential stem cell treatments are currently being tested on animals, and have been tested on spinal injuries in clinical trials. In a disorder very similar to Tay-Sachs, Sandhoff, promising and advanced work has been done in the mouse model using stem cells. (NTSAD, 2014)