Assays for diagnosing and evaluating treatment options for Fabry disease

A method for determining whether a patient having a deficiency in activity of a protein will respond to treatment with a specific pharmacological chaperone for the protein, which method comprises:

• a. contacting cells from a patient with a pharmacological chaperone specific for the protein;
• and
• b. comparing protein activity in cells not contacted with the specific pharmacological chaperone with protein activity in cells contacted with the specific pharmacological chaperone;
• wherein an increase in protein activity in cells contacted with the specific pharmacological chaperone over activity in cells not contacted with the specific pharmacological chaperone indicates that the patient will respond to treatment with the specific pharmacological chaperone;
• wherein the protein is a lysosomal enzyme, wherein the patient has been diagnosed with a lysosomal storage disorder, wherein the specific pharmacological chaperone is 1-deoxygalactonojirimycin;
• and wherein the cells are white blood cells and wherein the white blood cells are T lymphocytes and the contact with the specific pharmacological chaperone occurs in vitro.