The development of targeted pharmaceutical and genetic therapies for Tay-Sachs and Sandhoff diseases is an active pursuit of medical scientists globally. As a result, a number of promising treatment avenues have been identified and may be relevant to the current or future care of your child or loved one.
If experimental or emerging therapies are appropriate for your child or loved one, your medical team will discuss these with you.
Increasingly, these emerging therapies are known as targeted. This means that they are drugs or other substances that have a very specific approach, interfering with specific molecules and leaving those that are still functioning normally.
Examples of these therapies include chaperone, enzyme replacement, gene replacement (gene transfer), gene editing and substrate reduction therapies. Research into these therapies, and their application for Tay-Sachs and Sandhoff diseases is ongoing.
Enzyme replacement therapy (ERT)
Enzyme replacement therapy, or ERT, involves replacing a missing enzyme in individuals who are deficient or lack a particular enzyme. This approach is used to treat some lysosomal disorders, and scientists are attempting to develop similar approaches for individuals with Tay-Sachs and Sandhoff disease.
Genetic Therapies (Gene transfer and gene editing)
Gene transfer (or gene addition) therapy involves the replacement of a defective gene with a normal working copy of the gene to restore cell function and correct disease. This enables the production of active enzyme and prevents the development and progression of the disease in question.
Gene editing refers to technology which enables correction of the disease-causing genetic mistake within a living cell. You might hear this referred to as “CRISPR”.
Scientists are attempting to develop gene transfer and gene editing technologies as a therapy for Tay-Sachs and Sandhoff disease, however such approaches are not currently available treatments.
Chaperone therapy involves the development of specific medications which improve the function of the individual’s faulty B-hexosaminidase enzyme, by stabilising it and helping it to reach the lysosome where it can then act to catabolise GM2 ganglioside.
Scientists are attempting to develop mutation specific chaperon drugs, and some agents have already been trialled in patients with Tay-Sachs and Sandhoff disease.
Substrate reduction therapy
Substrate reduction therapy involves development of specific medications which help reduce the amount of GM2 ganglioside (substrate) within the cells of people with Tay-Sachs and Sandhoff disease. This helps their own faulty enzyme work more efficiently as it has less work to do to prevent further build-up of GM2 ganglioside.
Scientists are attempting to develop effective substrate reduction drugs, and some agents have already been trialled in patients with Tay-Sachs and Sandhoff disease.