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AssigneesUniversity of Massachusetts, The Clinic for Special Children, Inc.
InventorsGuangping Gao, Dan Wang, Jiaming Wang, Kevin A. Strauss
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In some aspects the disclosure provides compositions and methods for promoting expression of functional BCKDHA protein, which is the E1-alpha subunit of the branched-chain alpha-keto acid (BCAA) dehydrogenase complex, in a subject. In some aspects the disclosure provides compositions and methods for promoting expression of functional BCKDHB protein, which is the E1-beta subunit of the branched-chain alpha-keto acid (BCAA) dehydrogenase complex, in a subject. In some aspects the disclosure provides compositions and methods for promoting expression of functional BCKDHA and BCKDHB proteins, in a subject. In some embodiments, the disclosure provides methods of treating a subject having Maple Syrup Urine Disease (MSUD).
A method for promoting expression of functional BCKDHA protein in a subject, the method comprising administering to the subject an rAAV comprising a capsid containing a nucleic acid engineered to express BCKDHA in the liver and/or skeletal muscle of the subject, wherein the subject comprises at least one BCKDHA allele having a loss-of-function mutation associated with Maple Syrup Urine Disease (MSUD);
Dependencies are inferred from the claim text.