Compositions and methods for upregulating isoforms of dystrophin as therapy for Duchenne muscular dystrophy (DMD)
AssigneeYale University
InventorsMonkol Lek, Angela Lek, Keryn Woodman, Kaiyue Ma
Life of this patent
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Abstract
The present invention includes methods for treating a disease or disorder that is associated with aberrant or absent dystrophin, by upregulating a brain isoform of dystrophin (e.g. purkinje and/or cortical) in a subject in need thereof.
Claims5
A method of treating a disease or disorder in a subject in need thereof, wherein the disease or disorder is associated with aberrant or absent dystrophin, the method comprising administering to the subject a composition that upregulates a cortical isoform of dystrophin,
- wherein the disease is Duchenne Muscular Dystrophy (DMD),
- wherein the composition comprises a CRISPR activation (CRISPRa) system that upregulates the cortical isoform of dystrophin,
- wherein the CRISPRa system comprises a guide RNA (gRNA) that targets the cortical dystrophin promoter region or the Purkinje dystrophin promoter region, and
- wherein the CRISPRa system comprises an AAV vector comprising the nucleotide sequence of SEQ ID NO:
- 11.
A pharmaceutical composition comprising an AAV vector comprising a CK8e promoter and a guide RNA (gRNA) sequence that targets the cortical dystrophin promoter region,
- wherein the AAV vector comprises the nucleotide sequence set forth in SEQ ID NO:
- 11.
Dependencies are inferred from the claim text.