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 are compositions and methods for enzyme replacement therapy using modified human cystathionine beta synthase (CBS) in the treatment of homocystinuria and related diseases and disorders.
Claims20
A method of treating homocystinuria in a human subject comprising administering an isolated human truncated cystathionine beta synthase (htCBS) mutant polypeptide to the subject, wherein:
- (a) the isolated htCBS mutant polypeptide comprises amino acids 2-413 of the amino acid sequence of SEQ ID NO:13 and is conjugated to a PEG moiety, and
- (b) the isolated htCBS mutant polypeptide is administered in a dose between 0.33 mg/kg and 10 mg/kg at least once a week for at least six weeks.
A method of increasing the cystathionine and/or cysteine in a human subject comprising administering an isolated human truncated cystathionine beta synthase (htCBS) mutant polypeptide to the subject, wherein:
- (a) the isolated htCBS mutant polypeptide comprises amino acids 2-413 of the amino acid sequence of SEQ ID NO:13 and is conjugated to a PEG moiety, and
- (b) the isolated htCBS mutant polypeptide is administered in a dose between 0.33 mg/kg and 10 mg/kg at least once a week for at least six weeks.
A method of decreasing homocysteine, methionine, and/or S-adenosyl homocysteine in a human subject comprising administering an isolated human truncated cystathionine beta synthase (htCBS) mutant polypeptide to the subject, wherein:
- (a) the isolated htCBS mutant polypeptide comprises amino acids 2-413 of the amino acid sequence of SEQ ID NO:13 and is conjugated to a PEG moiety, and
- (b) the isolated htCBS mutant polypeptide is administered in a dose between 0.33 mg/kg and 10 mg/kg at least once a week for at least six weeks.
Dependencies are inferred from the claim text.