NTSAD is dedicated to curing Tay-Sachs, Sandhoff, GM-1, Canavan and all the related 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.
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.
Gene Therapy
Stem Cell Therapy
Bone Marrow Transplant
Pharmacological or Molecular Chaperone Therapy
Enzyme Replacement Therapy
Stop-Codon Read Through Technology
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 the disease progression giving the most precious gift – time.
Substrate Inhibition
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. Also scientists are still learning about Canavan pathology or disease causing mechanism. This type of research is called Basic Research. Understanding the disease causing mechanism is vital to development of effective and safe therapies.
