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.
Claims24
A method of treating one or more symptom of liver disease in a subject, the method comprising administering to the subject a composition comprising an isolated human C-terminal truncated cystathionine beta synthase (htCBS) mutant polypeptide having a C15S mutation, wherein:
- the isolated htCBS mutant polypeptide has been PEGylated;
- the isolated htCBS mutant polypeptide is administered in a dose between about 0.01 and about 10 mg/kg;
- and
- wherein the subject has homocystinuria or a pathogenic CBS gene mutation.
A method of treating one or more skeletal symptoms in a subject, the method comprising administering to the subject a composition comprising an isolated human C-terminal truncated cystathionine beta synthase (htCBS) mutant polypeptide having a C15S mutation, wherein:
- the isolated htCBS mutant polypeptide has been PEGylated;
- the isolated htCBS mutant polypeptide is administered in a dose between about 0.01 and about 10 mg/kg;
- and
- wherein the subject has homocystinuria or a pathogenic CBS gene mutation.
A method of treating one or more ocular symptoms in a subject, the method comprising administering to the subject a composition comprising an isolated human C-terminal truncated cystathionine beta synthase (htCBS) mutant polypeptide having a C15S mutation, wherein:
- the isolated htCBS mutant polypeptide has been PEGylated;
- the isolated htCBS mutant polypeptide is administered in a dose between about 0.01 and about 10 mg/kg;
- and
- wherein the subject has homocystinuria or a pathogenic CBS gene mutation.
A method of increasing plasma lanthionine in a subject, the method comprising administering to the subject a composition comprising an isolated human C-terminal truncated cystathionine beta synthase (htCBS) mutant polypeptide having a C15S mutation, wherein:
- the isolated htCBS mutant polypeptide has been PEGylated;
- and
- the isolated htCBS mutant polypeptide is administered in a dose between about 0.01 and about 10 mg/kg.
A method of increasing cystathionine and/or cysteine in a tissue of a subject, said method comprising administering to the subject a composition comprising an isolated human C-terminal truncated cystathionine beta synthase (htCBS) mutant polypeptide having a C15S mutation, wherein said isolated htCBS mutant polypeptide has been PEGylated, and is administered in a dose between about 0.01 and about 10 mg/kg, wherein the tissue is liver, kidney, or brain.
A method of decreasing homocysteine, methionine, and/or S-adenosyl homocysteine in a tissue of a subject, said method comprising administering to the subject a composition comprising an isolated human C-terminal truncated cystathionine beta synthase (htCBS) mutant polypeptide having a C15S mutation, wherein said isolated htCBS mutant polypeptide has been PEGylated, and is administered in a dose between 0.01 and 10 mg/kg, wherein the tissue is liver, kidney, or brain.
Dependencies are inferred from the claim text.