Amicus Therapeutics | Date: 2015-03-09
Provided are in vitro and in vivo methods for determining whether a patient with Fabry disease will respond to treatment with a specific pharmacological chaperone.
Amicus Therapeutics | Date: 2015-05-05
The present invention relates to a method for treating an individual having Cerebral Amyloid Angiopathy by using pharmacological chaperones to increase the activity of gangliosidase and/or sialidase enzymes involved in ganglioside catabolism.
Amicus Therapeutics | Date: 2015-05-15
The present invention provides dosing regimens for administering pharmacological chaperones to a subject in need thereof. The dosing regimens can be used to treat disorders caused by improper protein misfolding, such as lysosomal storage disorders.
Amicus Therapeutics | Date: 2015-06-05
The present invention provides methods to determine whether a patient with a lysosomal storage disorder will benefit from treatment with a specific pharmacological chaperone. The present invention exemplifies an in vitro method for determining -galactosidase A responsiveness to a pharmacological chaperone such as 1-deoxygalactonojirimycin in a cell line expressing a mutant from of -galactosidase A. The invention also provides a method for diagnosing Fabry disease in patients suspected of having Fabry disease.
Amicus Therapeutics | Date: 2015-02-12
Described herein are modified sugar, iminosugar and azasugar compounds and methods of making same. One or more of these modified compounds contain sulfates, sulfites, sulfamates and/or sulfonamides. Also described are pharmaceutical compositions/formulations comprising these compounds, as well as methods using these modified sugar compounds for the treatment of MPS IIIC (also known as Sanfilippo Type C).