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Tay-Sachs, Canavan, Sandhoff, GM1 and related diseases

Pharmacological or Molecular Chaperone Therapy

What is Pharmacological or Molecular Chaperone Therapy?

Pharmacological or Molecular Chaperones are small molecules that are able to cross the blood brain barrier into the central nervous system. These chaperones attach to an inactive enzyme so that it takes the correct functional shape. Chaperones only work with certain mutations.

What is the Current Status of Pharmacological or Molecular Chaperone Therapy?

Pyrimethamine was investigated as a potential therapy for Late Onset Tay-Sachs. This study was especially challenging both because of lack of biomarkers and because it was believed that at the wrong dose the drug might actually reduce enzyme function. They concluded that pyrimethamine treatment enhances enzyme activity in LOTS at certain doses. However, significant side effects were experienced by a number of patients. Read more here.

Other chaperones are being investigated in Fabry and Pompe, which are lysosomal storage diseases.

What are the Challenges of Pharmacological or Molecular Chaperone Therapy?

Chaperones have the potential to reduce enzyme function if given at the wrong dose. Chaperones only respond to certain mutations. For example, pyrimethamine only responds to certain mutations causing Late Onset and Juvenile Tay-Sachs.

Learn more:
http://www.amicustherapeutics.com/technology/moa.asp

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