Amicus Therapeutics, Inc.

Richie Khanna

Kenneth Valenzano

John R Flanagan

John Crowley

Hung V Do

Russell Gotschall

Susan Elizabeth Fowles

Sergey Tesler

Enrique Diloné

Hing Char

Wendy Sunderland

Matthew John Toth

Yi Lun

Kenneth Joseph Valenzano

Enrique DilonÉ

The present application provides for compositions comprising high concentrations of acid α-glucosidase in combination with an active site-specific chaperone for the acid α-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 α-glucosidase enzyme formulation.

High concentration alpha-glucosidase compositions for the treatment of Pompe disease

A method for treating Pompe disease including administration of recombinant human acid α-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 α-glucosidase while minimizing inhibition of the enzymatic activity of the recombinant human acid α-glucosidase is provided.

Augmented acid alpha-glucosidase for the treatment of Pompe disease

Provided are a recombinant acid α-glucosidase and pharmaceutical composition comprising a recombinant acid α-glucosidase, wherein the recombinant acid α-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. Also provided herein are methods of producing, purifying, and formulating the recombinant acid α-glucosidase or pharmaceutical composition for administration to a subject and methods of treating a disease or disorder such as Pompe disease using the recombinant acid α-glucosidase or pharmaceutical composition.

Recombinant human acid alpha-glucosidase

A method for treating Pompe disease including administration of recombinant human acid &#x3b1;-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 &#x3b1;-glucosidase while minimizing inhibition of the enzymatic activity of the recombinant human acid &#x3b1;-glucosidase is provided.

The present application provides for compositions comprising high concentrations of acid a-glucosidase in combination with an active site-specific chaperone for the acid &#x3b1;-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 &#x3b1;-glucosidase enzyme formulation.

High concentration alpha-glucosidase compositions for the treatment of pompe disease

The present application provides for compositions comprising &#x3b1;-galactosidase A in combination with an active site-specific chaperone for the &#x3b1;-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 &#x3b1;-galactosidase A enzyme formulation.

&#x3b1;-galactosidase A and 1-deoxygalactonojirimycin co-formulation

The present application provides compositions comprising &#x3b1;-galactosidase A in combination with an active site-specific chaperone for the &#x3b1;-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 &#x3b1;-galactosidase A enzyme formulation. The present application also provides methods for treating Fabry disease using intravenous administration of 1-deoxygalactonojirimycin.

Alpha-galactosidase A and 1-deoxygalactonojirimycin co-formulation for the treatment of fabry disease

The present application provides for compositions comprising high concentrations of acid &#x3b1;-glucosidase in combination with an active site-specific chaperone for the acid &#x3b1;-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 &#x3b1;-glucosidase enzyme formulation.

High concentration &#x3b1;-glucosidase compositions for the treatment of Pompe disease

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.

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Somerset, NJ, United States of America

Richie Khanna