Abstract: The present invention relates to a method for treating an individual having Alzheimer's Disease by using pharmacological chaperones to increase the activity of gangliosidase and/or sialidase enzymes involved in ganglioside catabolism.

Abstract: 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.

Abstract: Pharmacological chaperone compounds and methods for the treatment of an individual having, or at risk of having, a disease condition associated with alpha-1-antitrypsin by using said compounds are disclosed. In particular, such methods are useful for the treatment or prevention of lung disorders associated with alpha-1-antitrypsin deficiency as well as liver disorders associated with an excess of alpha-1-antitrypsin. Suitable pharmacological chaperones include peptides and low-molecular weight compounds. Also provided is an assay for determining whether a test compound modulates alpha-1-antitrypsin activity.

Abstract: 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.

Abstract: The present invention provides methods for preventing and/or treating lysosomal storage disorders using 5-(fluoromethyl)piperidine-3,4-diol, 5-(chloromethyl)piperidine-3,4-diol, or a pharmaceutically acceptable salt, solvate, or prodrug thereof, or any combination of two or more thereof. In particular, the present invention provides methods for preventing and/or treating Gaucher's disease.

Abstract: The presently disclosed subject matter provides a dosing regimen and administration schedule for the use of 1-deoxygalactonojirimycin and enzyme replacement therapy for the treatment of Fabry disease. The presently disclosed subject matter further provides a dosing regimen and administration schedule for the use of migalastat hydrochloride and agalsidase for the treatment of Fabry disease.

Abstract: The present invention provides methods to determine whether a patient with a lysosomal storage disorder win 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.

Abstract: The present invention provides novel compositions as well as methods for preventing and/or treating lysosomal storage disorders. In particular, the present invention provides methods for preventing and/or treating Gaucher's disease.

Abstract: The present invention provides novel compounds as well as compositions and methods using the same for preventing and/or treating degenerative disorders of the central nervous system. In particular, the present invention provides methods for preventing and/or treating Parkinson's disease.

Abstract: The present invention provides novel compositions as well as methods for preventing and/or treating lysosomal storage disorders. In particular, the present invention provides methods for preventing and/or treating Gaucher's disease.

Abstract: The present invention provides novel compounds as well as compositions and methods using the same for preventing and/or treating degenerative disorders of the central nervous system. In particular, the present invention provides methods for preventing and/or treating Parkinson's disease.

Abstract: 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.

Abstract: Pharmacological chaperone compounds and methods for the treatment of an individual having, or at risk of having, a disease condition associated with alpha-1-antitrypsin by using said compounds are disclosed. In particular, such methods are useful for the treatment or prevention of lung disorders associated with alpha-1-antitrypsin deficiency as well as liver disorders associated with an excess of alpha-1-antitrypsin. Suitable pharmacological chaperones include peptides and low-molecular weight compounds. Also provided is an assay for determining whether a test compound modulates alpha-1-antitrypsin activity.

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

Abstract: The present invention provides mouse models for Pompe disease and methods of using the same to test agents that may be effective in the treatment of Pompe disease.

Abstract: The present invention relates to a method for treating an individual having Alzheimer's Disease by using pharmacological chaperones that bind presenelin and thereby increase ?-secretase activity.

Abstract: Provided is a method of monitoring the treatment of Gaucher disease with specific pharmacological chaperones using systemic and/or cellular surrogate markers. Also provided is a new biomarker that may be used to monitor the progress of such treatment.

Abstract: The present invention relates to a method for treating an individual having Alzheimer's Disease by using pharmacological chaperones to increase the activity of gangliosidase and/or sialidase enzymes involved in ganglioside catabolism.

Abstract: The method for modeling a dosing regimen for a medicament includes providing a system having at least two biocompartments. The method determines steady state levels in each of the biocompartments. After that, the method provides for modifying values to calculate an amount of at least one protein in one of the biocompartments to which the protein is being transported. Next, the method calculates and integrates a weighted value of the protein to find a weighted area under the curve. Then, the method calculates and integrates a non-drug value of the protein to find a non-drug area under the curve. Finally, the method evaluates one or more dosing regimens by comparing the weighted area under the curve and the non-drug area under the curve of the protein to determine a net effect of the drug over the time period.

Abstract: The present invention is directed to the quantitation of GL3 in human urine which can be used for the diagnosis of Fabry disease as well as for the assessment of treatment efficacy thereof.