Steps Closer to A Cure

For those that are interested. The following is information I dug up on a patent for Sandhoff gene therapy/treatment -- just by doing a Google search. Below is a link and an excerpt of the text:

http://www.patentstorm.us/patents/5798366/description.html


"The data outlined herein demonstrate that oral treatment of mice with NB-DNJ is well tolerated and that it results in the inhibition-of GSL biosynthesis. Furthermore, in the Tay-Sachs mouse, which exhibits progressive CNS storage of GM2 ganglioside, we have been able to prevent storage, as a consequence of reducing GSL biosynthesis. This indicates that NB-DNJ can cross the blood:brain barrier to an extent which can prevent storage.

This therefore indicates that substrate deprivation resulting from NB-DNJ administration is a rational strategy for the therapy of the human GSL lysosomal storage diseases. It has been shown in vitro that NB-DNJ specifically inhibits the first step in GSL biosynthesis, the glucosyl-transferase catalyzed biosynthesis of GlcCer (5-7).

As several of the human glycosphingolipid (GSL) storage diseases involve the storage of GlcCer-based GSLs, this therapeutic strategy can be applied to all of these disease states, irrespective of the specific storage product. This would include Gaucher (types 1, 2 and 3), Fabry disease, Tay-Sachs disease, Sandhoff disease, GM1 gangliosidosis, and fucosidosis.

The current application of enzyme replacement to Gaucher disease is limited by the fact that the enzyme cannot cross the blood:brain barrier and hence this therapy is only efficacious in type 1 disease where there is no neuropathology involved. Our finding that GSL depletion can be achieved in the central nervous system is therefore of major significance as it means that all the GSL storage diseases could be treated with NB-DNJ, as many of them involve neuropathology in the CNS."