Amicus Therapeutics, Inc.

Euro-celtique S.a.

Universitéde Montreal

Gary Lee

Robert E Boyd

Philip J Rybczynski

Jian-Qiang Fan

Kenneth Valenzano

Michel Bouvier

Kamlesh A Sheth

Benjamin Mugrage

Eric Richard Sjoberg

Xiaoxiang Zhu

Patricia René

Donald Kyle

R Richard Goehring

Sam Victory

Parviz Gharagozloo

Ken Vanlenzano

Patricia Rene

Patricia RenÉ

The present invention provides a method for increasing the activity of a mutant or wild-type &#x3b1;-glucosidase enzyme in vitro and in vivo by contacting the enzyme with a specific pharmacological chaperone which is a derivative of 1-deoxynojirimycin. The invention also provides a method for the treatment of Pompe disease by administration of chaperone small molecule compound which is a derivative of 1-deoxynojirimycin. The 1-deoxynojirimycin derivative is substituted at the N or C1 position. Combination therapy with replacement &#x3b1;-glucosidase gene or enzyme is also provided.

Method for the treatment of Pompe disease using 1-deoxynojirimycin derivatives

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.

Compositions for preventing and/or treating degenerative disorders of the central nervous system

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.

Compositions for preventing and/or treating lysosomal storage disorders

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.

Pharmacological chaperones for treating obesity

The present invention provides compounds and methods for the treatment of an individual having or at risk of having a condition associated with alpha-1-antitrypsin by using a pharmacological chaperone. In particular, such methods are useful for the treatment and/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. The present invention also provides an assay for determining whether a test compound modulates alpha-1-antitrypsin activity.

Compounds and method for treating or preventing disease conditions associated with alpha-1-antitrypsin

Described herein are modified sugar, iminosugar and azasugar compounds and methods of making same. One or more of these modified compounds contain sulfates, sulfites, sulfamates and/or sulfonamides. Also described are pharmaceutical compositions/formulations comprising these compounds, as well as methods using these modified sugar compounds for the treatment of MPS IIIC (also known as Sanfilippo Type C).

Sugar derivatives comprising sulfur-containing moieties and methods of making same and methods of using the same for the treatment of MPS IIIC

Method for the treatment of pompe disease using 1-deoxynojirimycin and derivatives

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.

Compounds and methods for treating or preventing disease conditions associated with &#x3b1;-1-antitrypsin

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.

Methods for preventing and/or treating lysosomal storage disorders

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.

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West Windsor, NJ, United States of America

Gary Lee