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Summary for Patent: 8,592,362
|Title:||Method to predict response to pharmacological chaperone treatment of diseases|
|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 .alpha.-galactosidase A responsiveness to a pharmacological chaperone such as 1-deoxygalactonojirimycin in a cell line expressing a mutant from of .alpha.-galactosidase A. The invention also provides a method for diagnosing Fabry disease in patients suspected of having Fabry disease.|
|Inventor(s):||Benjamin; Elfrida (Millstone Township, NJ), Do; Hung V. (New Hope, PA), Wu; Xiaoyang (Edison, NJ), Flanagan; John (East Windsor, NJ), Wustman; Brandon (San Diego, CA)|
|Assignee:||Amicus Therapeutics, Inc. (Cranbury, NJ)|
1. A method of treating a patient diagnosed with Fabry disease which comprises administering to the patient a therapeutically effective dose of 1-deoxygalactonorjirimycin,
wherein the patient is identified as having a mutant .alpha.-galactosidase A, relative to a human .alpha.-galactosidase A encoded by a nucleic acid sequence set forth in SEQ ID NO:2, said mutation selected from the group consisting of the
.alpha.-galactosidase A mutations A121T, A288D, A288P, A292P A348P, A73V, C52R, C94Y, D234E, D244H, D264Y, E338K, E341D, E398K, E48K, G271S, G35R, H225R, I219N, I242N, I270T, I303N, I317T, I354K, L14P, L243F, L300F, L310F, L45R, M267I, M76R, N224S,
N298K, N298S, N320I, N34K, P205R, P259L, P265L, P265R, P293A, P293S, P409S, P40L, P40S, Q279R, Q280H, Q280K, Q321E, Q321R, Q327E, R301P, R49G, R49L, R49S, S201Y, S276N, S297C, S345P, V269M, W340R, W47L, and W95S.
2. The method of claim 1 wherein the patient is female.
3. The method of claim 1, wherein 1-deoxygalactonojirimycin is in a pharmaceutically acceptable salt form.
4. The method of claim 3, wherein the pharmaceutically acceptable salt form is 1-deoxygalactonojirimycin hydrochloride.
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