Granted Patent
B2
US 12,370,268 · App. 17/386,063 · Granted Jul 29, 2025
Fabry disease gene therapy
Assignee:
UCL Business LTD
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Abstract
There is described a nucleic acid molecule comprising a nucleotide sequence encoding for a functional α-galactosidase A protein wherein the nucleotide sequence has at least 85% identity to the sequence of SEQ ID NO. 1. Also described is a vector, host cell or transgenic animal comprising the nucleic acid molecule; and a pharmaceutical composition comprising the nucleic acid molecule or the vector. Further, the use of the nucleic acid molecule in a method of treating Fabry disease is described.
Claims (15)
1. A method of treating Fabry disease in a subject, the method comprising administering to the subject via intravenous, intra-arterial, or intraperitoneal administration an AAV vector comprising a nucleic acid molecule, wherein the nucleic acid molecule comprises a nucleotide sequence encoding a polypeptide having α-galactosidase A activity, and wherein the nucleotide sequence encoding the polypeptide having α-galactosidase A activity has at least 91% identity to the nucleotide sequence of SEQ ID NO: 1 and is operably linked to a liver specific promoter.
2. The method of claim 1 , wherein the AAV vector comprises a nucleotide sequence having at least 90% identity to the nucleotide sequence of SEQ ID NO: 3.
3. The method of claim 1 , wherein the AAV vector comprises a nucleotide sequence having at least 95% identity to the nucleotide sequence of SEQ ID NO: 3.
4. The method of claim 1 , wherein the AAV vector comprises a nucleotide sequence having at least 98% identity to the nucleotide sequence of SEQ ID NO: 3.
5. The method of claim 1 , wherein the AAV vector comprises a nucleotide sequence having the nucleotide sequence of SEQ ID NO: 3.
6. The method of claim 1 , wherein the α-galactosidase A protein comprising the amino acid sequence of SEQ ID NO:1 comprises expression in hepatocytes that is increased as compared to an identical vector comprising a wild-type α-galactosidase A cDNA.
7. The method of claim 1 , wherein the nucleotide sequence encoding the polypeptide having α-galactosidase A activity has at least 92% identity to the nucleotide sequence of SEQ ID NO: 1.
8. The method of claim 1 , wherein the nucleotide sequence encoding the polypeptide having α-galactosidase A activity has at least 93% identity to the nucleotide sequence of SEQ ID NO: 1.
9. The method of claim 1 , wherein the nucleotide sequence encoding the polypeptide having α-galactosidase A activity has at least 94% identity to the nucleotide sequence of SEQ ID NO: 1.
10. The method of claim 1 , wherein the nucleotide sequence encoding the polypeptide having α-galactosidase A activity has at least 95% identity to the nucleotide sequence of SEQ ID NO: 1.
11. The method of claim 1 , wherein the nucleotide sequence encoding the polypeptide having α-galactosidase A activity has at least 96% identity to the nucleotide sequence of SEQ ID NO: 1.
12. The method of claim 1 , wherein the nucleotide sequence encoding the polypeptide having α-galactosidase A activity has at least 97% identity to the nucleotide sequence of SEQ ID NO: 1.
13. The method of claim 1 , wherein the nucleotide sequence encoding the polypeptide having α-galactosidase A activity has at least 98% identity to the nucleotide sequence of SEQ ID NO: 1.
14. The method of claim 1 , wherein the nucleotide sequence encoding the polypeptide having α-galactosidase A activity has at least 99% identity to the nucleotide sequence of SEQ ID NO: 1.
15. The method of claim 1 , wherein the nucleotide sequence encoding the polypeptide having α-galactosidase A activity has the nucleotide sequence of SEQ ID NO: 1.
Assignments (2)
ASSIGNMENT OF ASSIGNOR'S INTEREST
Recorded Feb 23, 2023
From: NATHWANI, AMIT; RAJ, DEEPAK
To: UCL BUSINESS PLC
Reel/Frame 062779/0946 →
CHANGE OF NAME
Recorded Feb 23, 2023
From: UCL BUSINESS PLC
To: UCL BUSINESS LTD
Reel/Frame 062838/0927 →
Priority Claims (1)
GB 1508025
· May 11, 2015
· national
Continuity (2)
Division
15573203
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