Gene therapy for combined methylmalonic acidemia/aciduria and hyperhomocysteinemia/homocystinuria, cobalamin C type, and deficiency of MMACHC

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United States of America Patent

PATENT NO 11510998
APP PUB NO 20180353623A1
SERIAL NO

16061091

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Abstract

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The present invention provides a synthetic MMACHC polynucleotide comprising a polynucleotide encoding MMACHC that is codon-optimized for expression in a human. Also provided is a polypeptide encoded by a synthetic MMACHC polynucleotide, an expression vector comprising a MMACHC gene sequence under the control of a chicken beta actin (CBA) promoter, and an expression vector comprising a synthetic MMACHC polynucleotide. Methods of treating cobalamin C deficiency and for detecting or tracking exogenous MMACHC are also provided.

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Patent Owner(s)

  • THE UNITED STATES OF AMERICA AS REPRESENTED BY THE SECRETARY DEPARTMENT OF HEALTH AND HUMAN SERVICES

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Inventor(s)

Inventor Name Address # of filed Patents Total Citations
Sloan, Jennifer L Silver Spring, US 2 0
Venditti, Charles P Potomac, US 21 24

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