The first clinical trials to test protein misfolding therapies are so new that researchers haven't yet agreed on a collective name for the compounds being administered. Variously dubbed chemical chaperones, pharmacological chaperones, and pharmacoperones, these small molecules correct the misfolding of proteins that recent research has implicated in a host of diseases, both rare and prevalent.
In such "conformational" diseases, misfolded proteins may lose their function and prematurely degrade. Or they can aggregate, resulting in a toxic gain of function that characterizes neurodegenerative conditions. So far, the best therapeutic progress with pharmacological chaperones has been in loss-of-function diseases. Promising results have been achieved in a small clinical trial to treat nephrogenic diabetes insipidus, and recruitment is under way of patients with emphysema and chronic liver disease, conditions that can derive from the same misfolded protein. Encouraging in vitro results have been reported for cystic fibrosis, Fabry disease, hypercholesterolemia, and the ...
