Title:
METHOD FOR TREATING FABRY DISEASE THROUGH A4GALT GENE EDITING
Document Type and Number:
WIPO Patent Application WO/2023/204463
Kind Code:
A1
Abstract:
This invention relates to an A4GALT gene expression inhibitor and induced pluripotent stem cells (iPSCs) with edited A4GALT genes. The A4GALT gene-edited induced pluripotent stem cells of the present invention can effectively reduce both the accumulation of Gb3 and the formation of zebra bodies, which are both pathological traits of Fabry disease, and thus can be advantageously used in a pharmaceutical composition and cell therapy product for the prevention or treatment of Fabry disease.
Inventors:
CHUNG BYUNG HA (KR)
LIM SUN-WOO (KR)
SHIN YOO-JIN (KR)
CUI SHENG (KR)
KO EUN JEONG (KR)
LEE HANBI (KR)
EUM SANG HUN (KR)
YANG CHUL-WOO (KR)
LIM SUN-WOO (KR)
SHIN YOO-JIN (KR)
CUI SHENG (KR)
KO EUN JEONG (KR)
LEE HANBI (KR)
EUM SANG HUN (KR)
YANG CHUL-WOO (KR)
Application Number:
PCT/KR2023/003861
Publication Date:
October 26, 2023
Filing Date:
March 23, 2023
Export Citation:
Assignee:
CATHOLIC UNIV KOREA IND ACADEMIC COOPERATION FOUNDATION (KR)
International Classes:
A61K35/545; A61K31/7088; A61K48/00; A61P3/00; A61P43/00; C12N5/074
Foreign References:
| KR102253326B1 | 2021-05-18 |
Other References:
DATABASE Nucleotide 8 November 2021 (2021-11-08), ANONYMOUS : "Homo sapiens alpha 1,4-galactosyltransferase (P blood group) (A4GALT), - Nucleotide - NCBI", XP093100903, retrieved from NCBI Database accession no. NM_001318038.3
KOK KEN, ZWIERS KIMBERLEY C., BOOT ROLF G., OVERKLEEFT HERMEN S., AERTS JOHANNES M. F. G., ARTOLA MARTA: "Fabry Disease: Molecular Basis, Pathophysiology, Diagnostics and Potential Therapeutic Directions", BIOMOLECULES, vol. 11, no. 2, pages 271, XP093100905, DOI: 10.3390/biom11020271
KIM YOUNG-KYU; YU JI HOON; MIN SANG-HYUN; PARK SANG-WOOK: "Generation of a GLA knock-out human-induced pluripotent stem cell line, KSBCi002-A-1, using CRISPR/Cas9", STEM CELL RESEARCH, ELSEVIER, NL, vol. 42, 4 December 2019 (2019-12-04), NL , XP085988073, ISSN: 1873-5061, DOI: 10.1016/j.scr.2019.101676
CUI SHENG, SHIN YOO JIN, FANG XIANYING, LEE HANBI, EUM SANG HUN, KO EUN JEONG, LIM SUN WOO, SHIN EUNJI, LEE KANG IN, LEE JAE YOUNG: "CRISPR/Cas9-mediated A4GALT suppression rescues Fabry disease phenotypes in a kidney organoid model", TRANSLATIONAL RESEARCH, ELSEVIER, AMSTERDAM, NL, vol. 258, 1 August 2023 (2023-08-01), NL , pages 35 - 46, XP093100908, ISSN: 1931-5244, DOI: 10.1016/j.trsl.2023.02.005
KOK KEN, ZWIERS KIMBERLEY C., BOOT ROLF G., OVERKLEEFT HERMEN S., AERTS JOHANNES M. F. G., ARTOLA MARTA: "Fabry Disease: Molecular Basis, Pathophysiology, Diagnostics and Potential Therapeutic Directions", BIOMOLECULES, vol. 11, no. 2, pages 271, XP093100905, DOI: 10.3390/biom11020271
KIM YOUNG-KYU; YU JI HOON; MIN SANG-HYUN; PARK SANG-WOOK: "Generation of a GLA knock-out human-induced pluripotent stem cell line, KSBCi002-A-1, using CRISPR/Cas9", STEM CELL RESEARCH, ELSEVIER, NL, vol. 42, 4 December 2019 (2019-12-04), NL , XP085988073, ISSN: 1873-5061, DOI: 10.1016/j.scr.2019.101676
CUI SHENG, SHIN YOO JIN, FANG XIANYING, LEE HANBI, EUM SANG HUN, KO EUN JEONG, LIM SUN WOO, SHIN EUNJI, LEE KANG IN, LEE JAE YOUNG: "CRISPR/Cas9-mediated A4GALT suppression rescues Fabry disease phenotypes in a kidney organoid model", TRANSLATIONAL RESEARCH, ELSEVIER, AMSTERDAM, NL, vol. 258, 1 August 2023 (2023-08-01), NL , pages 35 - 46, XP093100908, ISSN: 1931-5244, DOI: 10.1016/j.trsl.2023.02.005
Attorney, Agent or Firm:
WIE, Byoung Gap (KR)
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