NTSAD is dedicated to leading the worldwide fight to treat and cure Tay-Sachs, Canavan, GM1, and Sandhoff diseases. Treating these diseases falls into two general categories: restoring the missing enzyme or decreasing the waste accumulation. The scientific community generally agrees that no single therapy will cure these diseases but that rather a combination of approaches will slow, halt and even reverse the damage caused by these diseases. This section provides a basic introduction into these potential therapies.
These diseases are especially difficult to treat because they affect the central nervous system (CNS) which is protected by the blood brain barrier.
NTSAD has developed a comprehensive research strategy taking into consideration a therapeutic approach's potential stop or slow disease progression, reverse damage, and timeline to market. Learn more about the NTSAD Research Initiative.
NTSAD's world class Scientific Advisory Committee closely monitors all areas of potential therapy and new developments that may offer potential cures for our diseases so families can focus on enjoying time with each other.
Natural History Studies
The disease natural history is a comprehensive description of the disease without any interventions. Establishing this history is a vital step toward effective clinical trials because the natural history of the disease provides objective, quantifiable ways to definitively say whether a potential therapy is having the desired affect.
Read more on Natural History Study
Biomarkers
Biomarkers are ways to objectively measure disease severity to better understand how a potential therapy may be helping. A biomarker may be a measurable substance such as the substrate accumulated in the disease or it may be imaging that shows disease improvement.
Read more on Biomarkers
Restoring Enzyme Function
The majority of research and potential therapies focus on restoring the enzymes because the missing or deficient enzymes are the primary pathology, or disease causing mechanism, in Tay-Sachs, Sandhoff, GM-1, Canavan and related genetic diseases. Read more on approaches to restore enzymes:
Gene Therapy
Stem Cell Therapy
Bone Marrow Transplant
Pharmacological or Molecular Chaperone Therapy
Enzyme Replacement Therapy
Stop-Codon Read Through Technology
Decreasing Waste Accumulation
Reducing waste accumulation is another strategy to treat Tay-Sachs, Sandhoff, GM-1, Canavan and related diseases. It does not have the same potential to cure the disease because it does not address the primary disease causing mechanism, the missing or deficient enzyme. However, if successful it could slow or stop the disease progression giving the most precious gift - time.
Read more on Substrate Reduction Therapy
Canavan - A Closer Look
Canavan is a different type of disease than Tay-Sachs, Sandhoff and GM-1. It is a leukodystrophy. In addition to the approaches listed above another potential therapy is Acetate Supplement Therapy for Canavan. Also scientists are still learning about Canavan pathology or disease causing mechanism. There is ongoing gene therapy research as well. Understanding the disease causing mechanism is vital to development of effective and safe therapies.
Evaluating Experimental Therapies
Resources for those wanting to explore experimental therapies in the U.S. and abroad. Read more on Evaluating Experimental Therapies