| AMICUS THERAPEUTICS, INC. Patent applications |
| Patent application number | Title | Published |
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| 20120064545 | MOUSE MODEL FOR POMPE DISEASE AND METHODS OF USE THEREOF - 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. | 03-15-2012 |
| 20110268721 | Therapy Regimens, Dosing Regimens And Stable Medicaments For The Treatment Of Pompe Disease - The present application provides a method for treating Pompe disease in a subject in need thereof, that includes a method of administering to the subject a GAA enzyme in combination with an ASSC for the GAA enzyme. The present application also provides methods for increasing the in vitro and in vivo stability of a GAA enzyme formulation. | 11-03-2011 |
| 20110212996 | METHOD TO PREDICT RESPONSE TO PHARMACOLOGICAL CHAPERONE TREATMENT OF DISEASES - 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 α-galactosidase A responsiveness to a pharmacological chaperone such as 1-deoxygalactonojirimycin in a cell line expressing a mutant from of α-galactosidase A. The invention also provides a method for diagnosing Fabry disease in patients suspected of having Fabry disease. | 09-01-2011 |
| 20110189710 | TREATMENT OF POMPE DISEASE WITH SPECIFIC PHARMACOLOGICAL CHAPERONES AND MONITORING TREATMENT USING SURROGATE MARkERS - Provided is a method of monitoring the treatment of Pompe disease with specific pharmacological chaperones using systemic and/or cellular surrogate markers. | 08-04-2011 |
| 20110152319 | METHOD TO PREDICT RESPONSE TO PHARMACOLOGICAL CHAPERONE TREATMENT OF DISEASES - 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 α-galactosidase A responsiveness to a pharmacological chaperone such as 1-deoxygalactonojirimycin in a cell line expressing a mutant from of α-galactosidase A. The invention also provides a method for diagnosing Fabry disease in patients suspected of having Fabry disease. | 06-23-2011 |
| 20110136151 | ASSAYS FOR DIAGNOSING AND EVALUATING TREATMENT OPTIONS FOR POMPE DISEASE - Provided are in vitro, ex vivo and in vivo methods for determining whether a patient with Pompe disease will respond to treatment with a specific pharmacological chaperone. | 06-09-2011 |
| 20110105560 | TREATMENT OF CNS DISORDERS ASSOCIATED WITH MUTATIONS IN GENES ENCODING LYSOSOMAL ENZYMES - Described is a method for treating an individual having a neurological disorder with an associated mutation or mutations in a gene encoding a lysosomal enzyme. Specifically, the individual is administered a specific pharmacological chaperone for the lysosomal enzyme which increases trafficking of the protein from the ER to the lysosome in neural cells, with or without concomitantly increasing enzyme activity in neural cells. Restoration of trafficking relieves cell stress and other toxicities associated with accumulation of mutant proteins. Restoration of enzyme activity relieves substrate accumulation and pathologies associated with lipid accumulation. In a specific embodiment, the neurological disorder is Parkinson's disease or parkinsonism which is associated with mutations in glucocerebrosidase. | 05-05-2011 |
| 20110104727 | ASSAYS FOR DIAGNOSING AND EVALUATING TREATMENT OPTIONS FOR FABRY DISEASE - 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. | 05-05-2011 |
| 20110092541 | NOVEL COMPOSITIONS FOR PREVENTING AND/OR TREATING DEGENERATIVE DISORDERS OF THE CENTRAL NERVOUS SYSTEM - 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. | 04-21-2011 |
| 20110091442 | NOVEL COMPOSITIONS FOR PREVENTING AND/OR TREATING LYSOSOMAL STORAGE DISORDERS - 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. | 04-21-2011 |
| 20110052613 | METHOD FOR THE TREATMENT OF NEUROLOGICAL DISORDERS BY ENHANCING THE ACTIVITY OF BETA-GLUCOCEREBROSIDASE - Provided is a method of increasing the stability of wild-type β-glucocerebrosidase. Also provided are methods of treating and/or preventing an individual having a neurological disease in which increased expression or activity of β-glucocerebrosidase in the central nervous system would be beneficial. This method comprises administering an effective amount of a pharmacologic chaperone for β-glucocerebrosidase, with the proviso that the individual does not have a mutation in the gene encoding β-glucocerebrosidase. Further provided are β-glucocerebrosidase inhibitors which have been identified as specific pharmacologic chaperones and which have been shown to increase activity of β-glucocerebrosidase in vivo in the central nervous system. | 03-03-2011 |
| 20100266571 | DOSING REGIMENS FOR THE TREATMENT OF LYSOSOMAL STORAGE DISEASES USING PHARMACOLOGICAL CHAPERONES - 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. | 10-21-2010 |
| 20100261753 | METHODS FOR PREVENTING AND/OR TREATING DEGENERATIVE DISORDERS OF THE CENTRAL NERVOUS SYSTEM - The present invention provides methods for preventing and/or treating degenerative disorders of the central nervous system 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 Parkinson's disease. | 10-14-2010 |
| 20100260740 | METHODS FOR PREVENTING AND/OR TREATING LYSOSOMAL STORAGE DISORDERS - 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. | 10-14-2010 |
| 20100197018 | USE OF SUBSTRATES AS PHARMACOLOGICAL CHAPERONES - Provided is a method of enhancing the activity of lysosomal enzymes using substrates that are derivatives of natural substrates as pharmacological chaperones. | 08-05-2010 |
| 20100196279 | TREATMENT OF GAUCHER DISEASE WITH SPECIFIC PHARMACOLOGICAL CHAPERONES AND MONITORING TREATMENT USING SURROGATE MARKERS - 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. | 08-05-2010 |
| 20100189708 | HYDROXY PIPERIDINE DERIVATIVES TO TREAT GAUCHER DISEASE - The present invention provides novel hydroxy piperidine (HP) derivatives having (i) a positive charge at the position corresponding to the anomeric position of a pyranose ring; (ii) a short, flexible linker emanating from the corresponding position of the ring oxygen in a pyranose; and (iii) a lipophilic moiety connected to the linker and pharmaceutically acceptable salts thereof. The linker can be absent if the lipophilic moiety corresponds to a hydrocarbon chain with a linear length of 6 or more carbons. The present invention further provides a method for treating individuals having Gaucher disease by administering the novel HP derivative as “active-site specific chaperones” for the mutant glucocerebrosidase associated with the disease. | 07-29-2010 |
| 20100178667 | PERIODIC ACID-SCHIFF STAINING WITH DETECTION IN THE INFRARED RANGE - Provided is a method of detecting the presence and quantitating the amount of glycogen from a biological sample. This method employs PAS staining with detection in the infrared range. | 07-15-2010 |
| 20100160638 | NEW METHOD FOR PREPARING ISOFAGOMINE AND ITS DERIVATIVES - A method for preparing isofagomine, its derivatives, intermediates and salts thereof using novel processes to make isofagomine from D-(−)-arabinose and L-(−)-xylose. | 06-24-2010 |
| 20100119502 | THERAPY REGIMENS, DOSING REGIMENS AND STABLE MEDICAMENTS FOR THE TREATMENT OF POMPE DISEASE - The present application provides a method for treating Pompe disease in a subject in need thereof, that includes a method of administering to the subject a GAA enzyme in combination with an ASSC for the GAA enzyme. The present application also provides methods for increasing the in vitro and in vivo stability of a GAA enzyme formulation. | 05-13-2010 |
| 20100113517 | METHOD FOR THE TREATMENT OF FABRY DISEASE USING PHARMACOLOGICAL CHAPERONES - The present invention provides a method treating a patient with Fabry disease by determining whether there is an improvement of a surrogate marker that is associated with Fabry disease following administration of a specific pharmacological chaperone of α-galactosidase A. The method includes administering an effective amount of 1-deoxygalactonojirimycn to the individual, wherein the 1-deoxygalactonojirimycin binds to alpha-galactosidase A in an amount effective to increase activity of the alpha-galactosidase A. The present invention also provides a method for monitoring and increasing a therapeutic response of a patient with Fabry disease following administration of a specific pharmacological chaperone of α-galactosidase A by evaluating the effect on the cytoplasmic staining pattern of a cell from the patient, wherein detection of a staining pattern in the cell that is similar to the staining pattern in a cell from a healthy individual indicates that the individual with Fabry disease is a responder. | 05-06-2010 |
| 20100106473 | MULTIPLE COMPARTMENT DOSING MODEL - 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. | 04-29-2010 |
| 20090312345 | PHARMACOLOGICAL CHAPERONES FOR TREATING OBESITY - 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. | 12-17-2009 |
| 20090176830 | TARTRATE SALT OF ISOFAGOMINE AND METHODS OF USE - A novel tartaric acid salt of Isofagomine (Isofagomine tartrate) that can be used for the treatment of Gaucher disease is provided. The invention also provides a crystalline form of isofagomine tartrate, method for preparing the salt, a pharmaceutical composition containing the salt, and a method of treating Gaucher disease. | 07-09-2009 |
