Patent Application Titled "Muscle-Specific Nucleic Acid Regulatory Elements And Methods And Use Thereof" Published Online (USPTO 20230226220).

For example, it is imperative to further improve the efficacy and safety of tissue-targeted gene therapy applications for LGMD2E, ideally by developing more robust gene therapy vectors that allow for high and widespread diaphragm, smooth muscle, heart and skeletal muscle-specific expression, preferably diaphragm, heart and skeletal muscle-specific expression, of the therapeutic b-sarcoglycan transgene (b-SG) at lower and thus safer vector doses." The nucleic acid regulatory element according to claim 1 comprising at least: a) the diaphragm-specific regulatory consisting of the nucleotide sequence set forth in SEQ ID NO:4 (e.g. Dph-CRE06) or a functional fragment thereof; b) the heart- and skeletal muscle-specific regulatory element consisting of the nucleotide sequence set forth in SEQ ID NO:1 (e.g. CSk-SH5) or a functional fragment thereof; and c1) either the diaphragm-specific regulatory elements consisting of the nucleotide sequence set forth in SEQ ID NO:2 (e.g. Dph-CRE02) or a functional fragment thereof, or c2) the diaphragm-specific regulatory element consisting of the nucleotide sequence set forth in SEQ ID NO:3 (e.g. Dph-CRE04) or a functional fragment thereof, or c3) both diaphragm-specific regulatory elements of c1) and c2). [Extracted from the article]