Compositions and methods for treatment of homocystinuria
AssigneeThe Regents of the University of Colorado, a body corporate
InventorsJan P Kraus, Tomas Majtan, Erez Bublil
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Abstract
Provided herein are improved compositions and methods for enzyme replacement therapy using modified human cystathionine beta synthase (CBS) in the treatment of homocystinuria and related diseases and disorders.
Claims21
A method of treating homocystinuria in a subject, said method comprising administering to a subject a composition comprising an isolated human truncated cystathionine β synthase (htCBS) mutant polypeptide having a C15S mutation, and the truncation comprising at least a portion of the C-terminal regulatory region, wherein said isolated htCBS mutant polypeptide has been PEGylated with a 20 kDa NHS ester-activated PEG molecule, and wherein the isolated htCBS mutant polypeptide is administered at least once a week.
A method of increasing the amount of a metabolite in a subject, said method comprising administering to a subject a composition comprising an isolated human truncated cystathionine β synthase (htCBS) mutant polypeptide having a C15S mutation, and the truncation comprising at least a portion of the C-terminal regulatory region, wherein said isolated htCBS mutant polypeptide has been PEGylated with a 20 kDa NHS ester-activated PEG molecule, wherein the metabolite is selected from the group consisting of cystathionine and cysteine, and wherein the isolated htCBS mutant polypeptide is administered at least once a week.
A method of decreasing the amount of a metabolite in a subject, said method comprising administering to a subject a composition comprising an isolated human truncated cystathionine β synthase (htCBS) mutant polypeptide having a C15S mutation, and the truncation comprising at least a portion of the C-terminal regulatory region, wherein said isolated htCBS mutant polypeptide has been PEGylated with a 20 kDa NHS ester-activated PEG molecule, wherein the metabolite is selected from the group consisting of homocysteine, methionine and S-adenosyl homocysteine, and wherein the isolated htCBS mutant polypeptide is administered at least once a week.
A method of treating liver disease said method comprising administering to a subject a composition comprising an isolated human truncated cystathionine β synthase (htCBS) mutant polypeptide having a C15S mutation, and the truncation comprising at least a portion of the C-terminal regulatory region, wherein said isolated htCBS mutant polypeptide has been PEGylated with a 20 kDa NHS ester-activated PEG molecule, and wherein the isolated htCBS mutant polypeptide is administered at least once a day for at least 4 weeks.
Dependencies are inferred from the claim text.