Cranbury, NJ, United States

Amicus Therapeutics

www.amicusrx.com
Cranbury, NJ, United States
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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.


The present application provides compositions comprising -galactosidase A in combination with an active site-specific chaperone for the -galactosidase A, and methods for treating Fabry 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 -galactosidase A enzyme formulation. The present application also provides methods for treating Fabry disease using intravenous administration of 1-deoxygalactonojirimycin.


Patent
Amicus Therapeutics | Date: 2017-02-22

Described herein are dosing regimens and kits for the treatment and/or prevention of cerebral amyloidoses such as Alzheimers disease (AD) and/or cerebral amyloid angiopathy (CAA).


Patent
Amicus Therapeutics | Date: 2017-08-09

Recombinant human alpha glucosidase (rhGAA) composition derived from CHO cells that contains a more optimized glycan composition consisting of a higher amount of rhGAA containing N-glycans carrying mannose-6-phosphate (M6P) or bis-M6P than conventional rhGAAs, along with low amount of non-phosphorylated high mannose glycans, and low amount of terminal galactose on complex oligosaccharides. Compositions containing the rhGAA, and methods of use are described.


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.


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.


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.


Described herein are variant, recombinant -glucocerebrosidase proteins characterized as having increased stability relative to recombinant wild-type -glucocerebrosidase. Also provided herein are variant, recombinant -glucocerebrosidase proteins characterized as retaining more catalytic activity relative to recombinant wild-type -glucocerebrosidase. Further described herein are variant, recombinant -glucocerebrosidase proteins that can have amino acid variations at one or more of the following positions: 316, 317, 321 and 145. Methods of making the variant, recombinant -glucocerebrosidase proteins are also described as well as methods of treating patients having lysosomal storage diseases.

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