Abstract: Provided are methods of treating a patient diagnosed with Fabry disease and methods of enhancing ?-galactosidase A in a patient diagnosed with or suspected of having Fabry disease. Certain methods comprise administering to a patient a therapeutically effective dose of a pharmacological chaperone for ?-galactosidase A, wherein the patient has a splice site mutation in intron 4 of the nucleic acid sequence encoding ?-galactosidase A. Also described are uses of pharmacological chaperones for the treatment of Fabry disease and compositions for use in the treatment of Fabry disease.

Abstract: The present disclosure relates to recombinant adeno-associated virus (rAAV) delivery of an acid alpha-glucosidase (GAA) polynucleotide. The disclosure provides rAAV vectors and methods of using the rAAV vectors for GAA gene therapy for Pompe disease.

Abstract: Provided herein are methods for treating Pompe disease in pediatric patients by administering to a subject a population of recombinant human acid ?-glucosidase molecules or a pharmaceutical composition or formulation thereof, and a pharmacological chaperone.

Abstract: Provided herein are methods for treating Pompe disease in pediatric patients by administering to a subject a population of recombinant human acid ?-glucosidase molecules or a pharmaceutical composition or formulation thereof, and an enzyme stabilizer.

Abstract: Methods for the production, capturing and purification of recombinant human lysosomal proteins are described. Such recombinant human lysosomal proteins can have high content of mannose-6-phosphate residues. Also described are pharmaceutical compositions comprising such recombinant human lysosomal proteins, as well as methods of treatment and uses of such recombinant human lysosomal proteins.

Abstract: Provided are pharmaceutical formulations comprising a recombinant acid ?-glucosidase, wherein the recombinant acid ?-glucosidase is expressed in Chinese hamster ovary (CHO) cells and comprises an increased content of N-glycan units bearing one or two mannose-6-phosphate residues when compared to a content of N-glycan units bearing one or two mannose-6-phosphate residues of alglucosidase alfa; at least one buffer selected from the group consisting of a citrate, a phosphate and combinations thereof; and at least one excipient selected from the group consisting of mannitol, polysorbate 80, and combinations thereof, wherein the formulation has a pH of from about 5.0 to about 7.0. Also provided are methods of treating Pompe disease using these pharmaceutical formulations.

Abstract: Provided are dosing regimens for the treatment of Fabry disease in a patient. Certain methods relate to the treatment of ERT-experienced or ERT-naïve Fabry patients. Certain methods comprise administering to the patient about 123 mg free base equivalent of migalastat for improving left ventricular mass and/or improving podocyte globotriaosylceramide.

Abstract: 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.

Abstract: Provided are methods for treatment of Fabry disease in patients having HEK assay amenable mutations in ?-galactosidase A. Certain methods comprise administering migalastat or a salt thereof every other day, such as administering about 150 mg of migalastat hydrochloride every other day.

Abstract: Provided are methods of treating a patient diagnosed with Fabry disease and methods of enhancing ?-galactosidase A in a patient diagnosed with or suspected of having Fabry disease. Certain methods comprise administering to a patient a therapeutically effective dose of a pharmacological chaperone for ?-galactosidase A, wherein the patient has a mutation in the nucleic acid sequence encoding ?-galactosidase A. Also described are uses of pharmacological chaperones for the treatment of Fabry disease and compositions for use in the treatment of Fabry disease.

Abstract: 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.

Abstract: Provided are methods of treating Fabry disease in a patient having severe renal impairment. A method for the treatment of Fabry disease in a patient having severe renal impairment, including administering to the patient about 50 mg to about 200 mg free base equivalent (FBE) of migalastat or salt thereof at a frequency of less than once every week. A method for the treatment of Fabry disease in a patient having severe renal impairment, including administering to the patient about 50 mg to about 100 mg free base equivalent of migalastat or salt thereof at a frequency of between about once every three days and about once every two weeks.

Abstract: The present invention provides methods for treating lysosomal storage disorders such as Gaucher's disease, by using compounds of Formula III as described herein.

Abstract: Provided herein are methods for treating Pompe disease by administering to a subject a population of recombinant human acid ?-glucosidase molecules or a pharmaceutical composition or formulation thereof, and an enzyme stabilizer.

Abstract: 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.

Abstract: A method for treating Pompe disease including administration of recombinant human acid ?-glucosidase having optimal glycosylation with mannose-6-phosphate residues in combination with an amount of miglustat effective to maximize tissue uptake of recombinant human acid ?-glucosidase while minimizing inhibition of the enzymatic activity of the recombinant human acid ?-glucosidase is provided.

Abstract: 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.

Abstract: Provided are methods of treating a patient diagnosed with Fabry disease and methods of enhancing ?-galactosidase A in a patient diagnosed with or suspected of having Fabry disease. Certain methods comprise administering to a patient a therapeutically effective dose of a pharmacological chaperone for ?-galactosidase A, wherein the patient has a splice site mutation in intron 4 of the nucleic acid sequence encoding ?-galactosidase A. Also described are uses of pharmacological chaperones for the treatment of Fabry disease and compositions for use in the treatment of Fabry disease.

Abstract: A method for treating Pompe disease including administration of recombinant human acid ?-glucosidase having optimal glycosylation with mannose-6-phosphate residues in combination with an amount of miglustat effective to maximize tissue uptake of recombinant human acid ?-glucosidase while minimizing inhibition of the enzymatic activity of the recombinant human acid ?-glucosidase is provided.