Research

Research is making exciting advances towards a treatment and a cure. It is important to note that Tay-Sachs research is meaningful to Sandhoff and GM-1 as these diseases share many biochemical traits.

Gene Therapy

Researchers have cured Tay-Sachs mice and greatly improved the condition of Tay-Sachs cats. Plans are currently underway to approach the FDA for approval of a Phase I clinical trial. Gene Therapy

Molecular Chaperone

Pyrimethamine (PYR) molecular chaperone is currently in clinical trials of LOTS. At the right dose PYR could increases enzyme activity. Pharmacological or Molecular Chaperone Therapy

Substrate Inhibition

The Zavesca substrate inhibition clinical trial was not considered a success and it is not currently being pursued as a treatment, but the drug is available for off-label use. Many families felt the drug slowed the disease progression. Substrate Inhibition

Stem Cells

Exciting breakthrough work on the potential therapeutic uses of stem cells was done in Sandhoff mice. Stem cell therapy is still an emerging field; potential therapies or clinical trials using stem cell therapy are not immediate. Stem Cell Therapy

Bone Marrow Transplant

Bone Marrow Transplant is an extremely invasive and experimental intervention. Bone Marrow Transplant