公开(公告)号：US12084693B2

公开(公告)日：2024-09-10

申请号：US17055523

申请日：2019-05-15

Applicant: SPARK THERAPEUTICS, INC.

Inventor： Xavier Anguela ,  Sean Armour ,  Jayme Nordin

IPC: C12N9/26 ,  A61K48/00 ,  C12N15/86

CPC classification number: C12N9/2408 ,  A61K48/005 ,  C12N15/86 ,  C12Y302/0102 ,  C12N2750/14143 ,  C12N2750/14152 ,  C12N2800/22 ,  C12N2830/001 ,  C12N2830/50

Abstract: The invention provides nucleic acids encoding acid α-glucosidase (GAA). In certain embodiments, nucleic acids have greater than about 86% sequence identity to a sequence selected from the group consisting of any of the sequences set forth as SEQ ID NOs:1-5. In certain embodiments, nucleic acids encoding acid α-glucosidase (GAA) contain less than 127 CpG dinucleotides. Expression cassettes, vectors, cells and cell lines and methods of using such nucleic acids encoding acid α-glucosidase (GAA) are also provided.

公开(公告)号：US20220387560A1

公开(公告)日：2022-12-08

申请号：US17816367

申请日：2022-07-29

Applicant: SPARK THERAPEUTICS, INC.

Inventor： George Buchlis ,  Xavier Anguela ,  Katherine A. High

IPC: A61K38/46 ,  C12N9/22 ,  C12N15/10 ,  C12N15/864 ,  A61K31/7088

Abstract: Disclosed herein are compositions and methods of treating and/or correcting ocular disease in a subject, such as a mammal (e.g., human) eye using an Adeno-associated virus (AAV) system. The AAV system employs a nucleic acid encoding a CRISPR-Cas9 system for targeted gene disruption or correction.

公开(公告)号：US20250101396A1

公开(公告)日：2025-03-27

申请号：US18828493

申请日：2024-09-09

Applicant: Spark Therapeutics, Inc.

Inventor： Xavier Anguela ,  Sean Armour ,  Jayme Nordin

IPC: C12N9/26 ,  A61K48/00 ,  C12N15/86

Abstract: The invention provides nucleic acids encoding acid α-glucosidase (GAA). In certain embodiments, nucleic acids have greater than about 86% sequence identity to a sequence selected from the group consisting of any of the sequences set forth as SEQ ID NOs: 1-5. In certain embodiments, nucleic acids encoding acid α-glucosidase (GAA) contain less than 127 CpG dinucleotides. Expression cassettes, vectors, cells and cell lines and methods of using such nucleic acids encoding acid α-glucosidase (GAA) are also provided.

公开(公告)号：US20240074986A1

公开(公告)日：2024-03-07

申请号：US18258981

申请日：2021-12-22

Applicant: Spark Therapeutics, Inc.

Inventor： Ali Nahvi ,  Xavier Anguela ,  Rui Zhang

IPC: A61K9/51 ,  A61K31/573 ,  A61K31/663 ,  A61K48/00 ,  C07K16/28 ,  C12N15/88

CPC classification number: A61K9/5123 ,  A61K31/573 ,  A61K31/663 ,  A61K48/0058 ,  C07K16/2866 ,  C12N15/88

Abstract: Methods of delivering a transgene to a subject in need thereof are described. In particular, the methods include administering to the subject (i) a phagocyte-depleting agent, and (ii) a pharmaceutical composition comprising a non-viral vector comprising the transgene and a pharmaceutically acceptable carrier. The methods can be used to treat a subject in need of treatment for a disease caused by a loss of function or activity of a protein, or to treat a subject in need of treatment for a disease caused by a gain of function activity or expression of a protein.

公开(公告)号：US11168124B2

公开(公告)日：2021-11-09

申请号：US15462660

申请日：2017-03-17

Applicant: SPARK THERAPEUTICS, INC.

Inventor： Xavier Anguela ,  Sam Hsien-I Shen

IPC: C12N15/86 ,  C07K14/755 ,  A61K38/37 ,  A61K45/06 ,  A61K48/00 ,  C12N7/00

Abstract: CpG reduced nucleic acid variants encoding FVIII protein and methods of use thereof are disclosed. In particular embodiments, CpG reduced nucleic acid variants encoding FVIII are expressed more efficiently by cells, are secreted at increased levels by cells over wild-type Factor VIII proteins, exhibit enhanced expression and/or activity over wild-type Factor VIII proteins or are packaged more efficiently into viral vectors.

公开(公告)号：US20160346359A1

公开(公告)日：2016-12-01

申请号：US15143272

申请日：2016-04-29

Applicant: Spark Therapeutics, Inc.

Inventor： George Buchlis ,  Xavier Anguela ,  Katherine A. High

IPC: A61K38/46 ,  A61K31/7088

CPC classification number: A61K38/465 ,  A61K31/7088 ,  A61K48/00 ,  C12N9/22 ,  C12N15/102 ,  C12N2750/14143

Abstract: Disclosed herein are compositions and methods of treating and/or correcting ocular disease in a subject, such as a mammal (e.g., human) eye using an Adeno-associated virus (AAV) system. The AAV system employs a nucleic acid encoding a CRISPR-Cas9 system for targeted gene disruption or correction.

Abstract translation: 本文公开了使用腺相关病毒（AAV）系统治疗和/或矫正受试者例如哺乳动物（例如人）眼睛的眼部疾病的组合物和方法。 AAV系统采用编码CRISPR-Cas9系统的核酸进行靶基因破坏或校正。

公开(公告)号：US20190038724A1

公开(公告)日：2019-02-07

申请号：US16156649

申请日：2018-10-10

Applicant: SPARK THERAPEUTICS, INC.

Inventor： George Buchlis ,  Xavier Anguela ,  Katherine A. High

IPC: A61K38/46 ,  C12N15/10 ,  C12N9/22 ,  A61K31/7088

Abstract: Disclosed herein are compositions and methods of treating and/or correcting ocular disease in a subject, such as a mammal (e.g., human) eye using an Adeno-associated virus (AAV) system. The AAV system employs a nucleic acid encoding a CRISPR-Cas9 system for targeted gene disruption or correction.