Last week, stem cell gene therapy was discussed as a current research topic for the curing and/or treating of Tay-Sachs disease. There are many other therapies and drugs being researched and tested in hopes of finding a cure for this illness. Another research theory is the idea of using substrate reduction therapy to help those infants affected with Tay-Sachs.
Substrate reduction therapy is centered on the idea of lowering the rate of ganglioside production to better match the level of residual hex A enzyme in the nerve cells found in the brains of patients suffering from Tay-Sachs. The ideas of substrate reduction therapy was thought of in the early 1980s, but there were mixed emotions regarding this notion and so it took a while before scientists and researchers decided to test the idea. The problem with substrate reduction therapy for patients suffering from Tay-Sachs disease is the amount and time at which it is used on a patient. The lipids which make up the phospholipid bilayer around cells may be distorted and cellular production and differentiation could be disturbed.
The main downside about substrate reduction therapy is the fact that this is yet another therapy that has a hard time passing through the blood-brain barrier. This treatment has been useful for those affected with Gaucher disease which is similar to Tay-Sachs in how both have enzyme production abnormalities. However, the big difference is that Gaucher disease does not stem from the brain, but rather the spleen. This treatment is said to have helped close to 3,000 people worldwide affected with Gaucher disease. Maybe one day Tay-Sachs will have a cure found like this one that is being used for the Gaucher disease.
Substrate reduction therapy is not available at this time to those diagnosed with Tay-Sachs disease. It is still being tested on mice and primates, but scientists and researchers are hopeful that the FDA will allow them to extend studies to clinical trials, but when and really even if that will happen is still a big question being asked. It is also being discussed that perhaps no one treatment will slow, stop, or reverse the Tay-Sachs disease, but rather a combination of various drugs and therapies.
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