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.
Pyrimethamine is currently being investigated as a potential therapy for Late Onset Tay-Sachs. Only adults with certain mutations known to respond to pyrimethamine are eligible for the study. This study is especially challenging both because of lack of biomarkers and because it is believed that at the wrong dose the drug might actually reduce enzyme function.
Other chaperones are being investigated in Fabry and Pompe, lysosomal storage diseases.
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
