Gene therapy for treating CDKL5 deficiency disorder
AssigneeUltragenyx Pharmaceutical Inc.
InventorsSharyl Lynne Fyffe-Maricich, Matthew Scott Fuller, Margaret Caroline Wright, Lorelei Ioana Stoica, Stewart Craig, Sean Christopher Daugherty
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Abstract
This present disclosure provides adeno-associated viral vectors, recombinant adeno-associated vims (rAAV), and methods of their use in gene therapy for treating CDKL5 deficiency disorder (CDD). Also provided are pharmaceutical compositions comprising an rAAV of the invention and a pharmaceutically acceptable carrier or excipient. These pharmaceutical compositions may be useful in gene therapy for the treatment of CDD caused by mutations in CDKL.
Claims15
A recombinant adeno-associated virus (rAAV), wherein said rAAV comprises an AAV capsid and a vector genome packaged therein, wherein said vector genome comprises:
- (a) a promoter sequence;
- and
- (b) a coding sequence for CDKL5, wherein said coding sequence comprises a sequence which is at least 95% identical to a sequence selected from SEQ ID NOs:
- 1, 2, 3, 4, 5, 6, 7, and 8.
A polynucleotide which comprises a nucleic acid sequence that is:
- (a) at least 95% identical to the sequence of SEQ ID NO:
- 19;
- (b) 100% identical to the sequence of SEQ ID NO:
- 19;
- (c) at least 95% identical to the sequence of SEQ ID NO:
- 20;
- or
- (d) 100% identical to the sequence of SEQ ID NO:
- 20.
A recombinant adeno-associated virus (rAAV), wherein said rAAV comprises an AAV capsid and a vector genome packaged therein, wherein said vector genome comprises:
- (a) an AAV 5′-inverted terminal repeat (ITR) sequence of SEQ ID NO:
- 11;
- (b) a human synapsin 1 (SYN1) promoter sequence of SEQ ID NO:
- 12;
- (c) a nucleic acid sequence of SEQ ID NO:
- 1 encoding CDKL5;
- (d) an SV40 polyadenylation signal sequence of SEQ ID NO:
- 15;
- and
- (e) an AAV 3′-ITR sequence of SEQ ID NO:
- 11.
Dependencies are inferred from the claim text.