Research Therapies

Enzyme Replacement Therapy (ERT)

Enzyme Replacement Therapy may one day to treat Tay-Sachs Disease. The replacement of the nonfunctional enzymes is the intention of ERT.
- The purpose of ERT is to replace the enzyme that is not functioning well.
- It was introduced four decades ago by Christian de Duve in 1964.
- Researchers have been trying to inject the deficient enzyme HEX A directly into the cerebrospinal fluid in order to saturate the brain.
Note: for this treatment, even if it is directly injecting it cannot be taken up efficiently due to the large size of the molecule. Although ERT is used in many other lysosomal storage disorders (LSD) the efficacies are not the same.
So far the treatment of TSD with ERT is ineffective.

Trials for ERT from NCI
The researcher from NCI conducted the experiment with a 14 month old and 7 weeks infant.
The procedure is weekly repetitive injection of pure Hex A.
This enzyme injection did not terminate the GM2 level as observed by the electronmicroscopy.
The researchers concluded that enzyme replacement therapy is not effective for patient with Tay-Sachs disease. (Neurology .1979 –pubMed-NCBI)

Gene Therapy (GT)

The purpose of using GT is to treat TSD.
The used of vectors to carry "one or more therapeutic genes into the brain." (Cure Tay-Sachs Foundation)
Inside the cells, vectors instruct to produce large amount of normal HEX A enzymes, which will spread all over the brain. This function will reduce the accumulation of lysosomal storage in the brain.
Is the best candidate for GT.

Substrate Reduction Therapy(SRT)

Substrate Reduction Therapy is an alternative therapuetic way to treat the lysosomal storage disorder. In addition, their aims is to reduce the amount of Glycoshingolipid (GSLs) to match the residual catabolic activity of the defective enzyme,according to The Royal Society that published online on 10 April 2003.

"The purpose of SRT is to use alternative enzymes to speed up the brain's catabolism of GM2 gangliosides. The activity is sufficient to prevent the accumulation of substrate level".(snf)

"By using the enzyme sialidase which allows the genetic defect to be effectively bypassed, GM2 gangliosides are metabolized so that their levels become almost inconsequential". (News medical)

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