Chaperone-based therapy for Niemann-Pick disease
AssigneeMount Sinai School of Medicine of New York University
InventorsEdward H. Schuchman, Robert J. Desnick
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Abstract
The present invention provides a method for treating individuals affected with the acid sphingomyelinase-deficient forms of Niemann-Pick disease (i.e., Type A or Type B Niemann-Pick) by administering small molecules as specific molecular “chaperones” for the deficient acid sphingomyelinase (ASM) enzyme associated with the disease. The molecules are ceramide, sphingomyelin, or phosphonucleotide analogues.
Claims10
A method of treating an individual having Niemann-Pick disease, or being genetically pre-disposed to developing Niemann-Pick disease, comprising administering to the individual a composition comprising a mutant acid sphingomyelinase (ASM) activity-enhancing amount of a compound wherein the compound is an inhibitor of wild-type ASM and is a ceramide analogue of Formula III:
- wherein Rn is an independently optionally substituted C1-10 alkyl, n=0-5, R7 is H or OH, R8 is H or C1-10 alkyl, and R9 is C10-20 alkyl.
A method of enhancing the activity of a mutant acid sphingomyelinase (ASM) comprising administering a mutant ASM activity-enhancing amount of a compound to a diseased individual with Niemann-Pick disease or an individual who is genetically pre-disposed to Niemann-Pick disease, wherein the compound is a ceramide analog of Formula III:
- wherein Rn is an independently optionally substituted C1-10 alkyl, n=0-5, R7 is H or OH, R8 is H or C1-10 alkyl, and R9 is C10-20 alkyl or a sphingomyelin analogue.
Dependencies are inferred from the claim text.