Methods and Materials for GALGT2 Gene Therapy
AssigneeResearch Institute At Nationwide Childeren's Hospital
InventorPaul Taylor Martin
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Abstract
The present disclosure relates to recombinant adeno-associated virus (rAAV) delivery of a GALGT2 polynucleotide. The disclosure provides rAAV and methods of using the rAAV for GALGT2 gene therapy of neuromuscular disorders. Exemplary neuromuscular disorders include, but are not limited to, muscular dystrophies such as Duchenne muscular dystrophy, Congenital Muscular Dystrophy 1A and Limb Girdle Muscular Dystrophy 2D.
Claims17
1-8. (canceled)
A method of treating a neuromuscular disorder in a human subject in need thereof comprising the step of administering to the human subject a recombinant adeno-associated virus (rAAV), wherein the rAAV comprises a genome comprising a nucleic acid comprising, in order from 5′ to 3′:
- (i) a first AAV2 inverted terminal repeat sequence (ITR);
- (ii) an MCK enhancer comprising nucleotides 236-442 of SEQ ID NO:
- 2;
- (iii) a muscle creatine kinase core promoter sequence comprising nucleotides 443-793 of SEQ ID NO:
- 2;
- (iv) a nucleotide sequence encoding a human β1-4-N-acetyl-D-galactosamine glycosyltransferase (GALGT2) polypeptide;
- and
- (v) a second AAV2 ITR sequence;
- wherein the human GALGT2 polypeptide has an amino acid sequence that is at least 90% identical to SEQ ID NO:
- 3 or is 100% identical to SEQ ID NO:
- 3, or is encoded by a nucleotide sequence 90% identical to nucleotides 1002-2522 of SEQ ID NO:
- 2 or 100% identical to nucleotides 1002-2522 of SEQ ID NO:
- 2.
The method of claim 24, wherein the polynucleotide sequence of the AAV rh.74 genome comprises the nucleotide sequence of SEQ ID NO:
- 1.
Dependencies are inferred from the claim text.