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Cranbury, NJ, United States

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.

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.

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.

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.

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).

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