Method to predict response to pharmacological chaperone treatment of diseases
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United States of America Patent
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Jun 29, 2021
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Dec 17, 2018
filing date -
Dec 17, 2018
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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 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.
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