Cranbury, NJ, United States
Cranbury, NJ, United States

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Patent
Amicus Therapeutics | Date: 2016-10-31

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.


Described herein are dosing regimens and kits for the treatment and/or prevention of lysosomal storage disorders such as Gaucher disease. Also described are dosing regimens and kits for the treatment and/or prevention of degenerative disorders of the central nervous system, such as the synucleinopathies Parkinsons disease or Lewy Body Dementia.


Provided is a method of increasing the stability of wild-type -glucocerebrosidase. Also provided are methods of treating and/or preventing an individual having a neurological disease in which increased expression or activity of -glucocerebrosidase in the central nervous system would be beneficial. This method comprises administering an effective amount of a pharmacologic chaperone for -glucocerebrosidase, with the proviso that the individual does not have a mutation in the gene encoding -glucocerebrosidase. Further provided are -glucocerebrosidase inhibitors which have been identified as specific pharmacologic chaperones and which have been shown to increase activity of -glucocerebrosidase in vivo in the central nervous system.


The present application provides for compositions comprising high concentrations of acid -glucosidase in combination with an active site-specific chaperone for the acid -glucosidase, and methods for treating Pompe disease in a subject in need thereof, that includes a method of administering to the subject such compositions. The present application also provides methods for increasing the in vitro and in vivo stability of an acid -glucosidase enzyme formulation.


Patent
Amicus Therapeutics | Date: 2016-10-31

A method for preparing isofagomine, its derivatives, intermediates and salts thereof using novel processes to make isofagomine from D-()-arabinose and L-()-xylose.


The present invention provides novel compounds


A variant, recombinant human -glucocerebrosidase protein having a mutation at one or more of the following positions: 316, 317, 321 and 145 relative to the amino acid sequence of SEQ ID NO: 1.


Patent
Amicus Therapeutics and University of Montréal | Date: 2016-05-06

The invention relates to methods of enhancing normal melanocortin-4 receptor (MC4R) activity, and to enhancing activity of an MC4R having a mutation which affects protein folding and/or processing of the MC4R. The invention provides a method of treating an individual having a condition in which increased activity of an MC4R at the cell surface would be beneficial, for example in obesity, by administering an effective amount of a pharmacological chaperone for the MC4R. The invention provides MC4R pharmacological chaperones which enhance the activity of MC4R. The invention further provides a method of screening to identify pharmacological chaperones which enhance folding of an MC4R in the endoplasmic reticulum (ER), in order to enhance the activity of the MC4R at the cell surface.


Described are novel salts of the compound (3R,4R,5S)-5-(difluoromethyl) piperidine-3,4-diol, as well as methods of using the same for preventing and/or treating lysosomal storage disorders and/or degenerative disorders of the central nervous system. In particular, the present invention provides methods for preventing and/or treating Gauchers disease and/or Parkinsons disease.


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.

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