Granted Patent
B2
US 12,630,839 · App. 16/734,271 · Granted May 19, 2026
Compositions for the treatment of Fabry disease
Assignee:
Sangamo Therapeutics, Inc.
C12N15/86A61K38/47A61K48/0058A61P3/00C12N9/2465C12N15/67C12N2750/14143C12N2800/22C12N2830/008C12N2830/42C12N2830/48C12N2830/50C12Y302/01022
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Abstract
The present disclosure provides expression constructs comprising a GLA transgene encoding the at least one α-Gal A protein for use in expressing α-Gal A proteins and preventing, inhibiting or treating Fabry disease or one or more symptoms associated with Fabry disease.
Claims (20)
1 . An adeno-associated virus (AAV) expression construct comprising an apolipoprotein E (APOE) enhancer comprising the nucleotide sequence as set forth in SEQ ID NO: 2 operably linked to an alpha 1-antitrypsin (hAAT) promoter comprising the nucleotide sequence as set forth in SEQ ID NO: 3, a human hemoglobin beta (HBB)-IGG intron comprising the nucleotide sequence as set forth in SEQ ID NO: 4, an α-galactosidase A (α-Gal A)transgene comprising the nucleotide sequence as set forth in SEQ ID NO: 5, a mutated Woodchuck Hepatitis Virus Posttranscriptional Regulatory Element sequence comprising the nucleotide sequence as set forth in SEQ ID NO: 6, and a bovine growth hormone poly A signal sequence comprising the nucleotide sequence as set forth in SEQ ID NO: 7.
2 . A pharmaceutical composition comprising (i) an AAV viral particle which comprises the AAV expression construct of claim 1 and (ii) a pharmaceutically acceptable carrier.
3 . The pharmaceutical composition of claim 2 , wherein the pharmaceutically acceptable carrier comprises phosphate buffered saline g comprising MgCl 2 .
4 . A genetically modified isolated cell comprising the expression construct of claim 1 .
5 . The genetically modified cell of claim 4 , wherein the cell is a stem cell, precursor cell, a liver cell, or a muscle cell.
6 . The genetically modified cell of claim 4 , wherein the cell is an insect cell.
7 . The AAV expression construct of claim 1 , wherein the AAV expression construct is packaged into a capsid of serotype AAV2/6.
8 . The AAV expression construct of claim 1 , wherein the AAV expression construct further comprises a sequence encoding a signal peptide, wherein the signal peptide comprises an α-Gal A signal peptide, an albumin signal peptide, a Factor IX (FIX) signal peptide, or an iduronate 2-sulfate (IDS) signal peptide.
9 . The AAV expression construct of claim 8 , wherein the signal peptide comprises the α-Gal A signal peptide.
10 . The pharmaceutical composition of claim 3 , wherein the phosphate buffered saline further comprises NaCl.
11 . The pharmaceutical composition of claim 10 , wherein the phosphate buffered saline further comprises sucrose.
12 . The pharmaceutical composition of claim 11 , wherein the phosphate buffered saline further comprises Poloxamer 188 (P 188).
13 . An AAV viral particle comprising the AAV expression construct of claim 1 .
14 . The AAV viral particle of claim 13 , which comprises serotype AAV2/6.
15 . A pharmaceutical composition comprising the AAV viral particle of claim 14 and a pharmaceutically acceptable carrier.
16 . The genetically modified cell of claim 6 , wherein the insect cell is a Sf9 cell.
17 . An adeno-associated virus (AAV) expression construct comprising the nucleotide sequence as set forth in SEQ ID NO: 9.
18 . An AAV viral particle comprising the AAV expression construct of claim 17 , wherein the AAV viral particle comprises serotype AAV2/6.
19 . A pharmaceutical composition comprising the AAV expression construct of claim 17 and a pharmaceutically acceptable carrier.
20 . A pharmaceutical composition comprising the AAV viral particle of claim 18 and a pharmaceutically acceptable carrier.
Assignments (1)
ASSIGNMENT OF ASSIGNOR'S INTEREST
Recorded Apr 15, 2020
From: HUSTON, MARSHALL W.
To: SANGAMO THERAPEUTICS, INC.
Reel/Frame 052407/0749 →
Continuity (2)
Provisional Application
62788439
· Jan 4, 2019
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