This therapy approaches the challenge of Tay-Sachs disease not from the shortage of Hex-A enzymes but from the abundance of GM2 waste product. If we can reduce the amount of waste being created, we can lengthen the life of a person with no Hex-A present and, in theory, save the life of someone that has some Hex-A. If it where possible to balance the amount of waste being created with the amount of waste your bodies Hex-A enzymes can breakdown – you would be in balance. No excess waste would accumulate, the storage areas would not swell, and no brain cells would die.
The most recent attempt at reducing the GM2 was a clinical trials for Zavesca® (produced by Actelion) in 2003. The drug was being trialed on both Late-On Set (LOTS) patients and Infantile patients under age 2. The drug's two immediate concerns were the horrible taste and side effect of inducing seizures in some patients. The LOTS study ended in Spring of 2006 with unsatisfactory conclusion. Zavesca® was not the miracle drug they had hoped. The drug was even hard to test on mice because the side effects made the mice so sick it was hard to gauge the impact of the therapy until after death.
Since Zavesca®, other drugs have been developed with far fewer or even no visible side effects, such as NB-DGJ. This drug has shown great promise in animal models, but is not being produced in quantity or studied for human trials because of a lack of demand (that is code for no profit margin).
While GM2 Inhibitors are not a cure, they could be an effective treatment to slow the progression of the Tay-Sachs and may be very useful when combined with other therapies.
For additional information:
Three articles written in the Jewish Daily Forward about the Zavesca® clinical trials www.forward.com/articles/7937/ (August 2003)
www.forward.com/articles/drug-may-prolong-lives-of-tay-sachs-babies/ (August 2005)
www.forward.com/articles/1461/ (August 2006)