公开(公告)号：US20140161788A1

公开(公告)日：2014-06-12

申请号：US14092336

申请日：2013-11-27

Applicant: BioMarin Pharmaceutical Inc.

Inventor： Mika Aoyagi-Scharber ,  Teresa Margaret Christianson ,  Melita Dvorak-Ewell ,  Daniel J. Wendt ,  Shinong Long ,  Jonathan LeBowitz ,  Daniel Solomon Gold

IPC: C07K14/65 ,  C12N9/24

CPC classification number: C07K14/65 ,  A61K38/00 ,  A61K38/47 ,  C07K2319/06 ,  C12N9/2402 ,  C12Y302/0105

Abstract: The present invention relates in general to therapeutic fusion proteins useful to treat lysosomal storage diseases and methods for treating such diseases. Exemplary therapeutic fusion proteins comprise a lysosomal enzyme, a lysosomal targeting moiety, e.g., an IGF-II peptide, and a spacer peptide. Also provided are compositions and methods for treating Mucopolysaccharidosis Type IIIB (Sanfilippo B Syndrome), comprising a targeted therapeutic fusion protein comprising alpha-N-acetylglucosaminidase (Naglu), a lysosomal targeting moiety, e.g., an IGF-II peptide, and a spacer peptide.

Abstract translation: 本发明一般涉及可用于治疗溶酶体贮积病的治疗融合蛋白和治疗这些疾病的方法。 示例性治疗性融合蛋白包含溶酶体酶，溶酶体靶向部分，例如IGF-II肽和间隔肽。 还提供了用于治疗IIIB型粘多糖贮积症（Sanfilippo B综合征）的组合物和方法，其包含靶向治疗性融合蛋白，其包含α-N-乙酰氨基葡糖苷酶（Naglu），溶酶体靶向部分，例如IGF-II肽和间隔肽 。

公开(公告)号：US20130236921A1

公开(公告)日：2013-09-12

申请号：US13848561

申请日：2013-03-21

Applicant: BIOMARIN PHARMACEUTICAL INC.

Inventor： Erno Pungor ,  Charles Hague ,  Zhi Chen

IPC: C12N9/16

CPC classification number: C12N9/16 ,  A01K2217/075 ,  A01K2267/035 ,  A61K38/00 ,  C12Q1/34 ,  C12Q1/44 ,  C12Y301/06014 ,  G01N33/6893 ,  G01N2333/924 ,  G01N2400/40 ,  G01N2500/04 ,  G01N2800/04

Abstract: This invention provides compositions of active highly phosphorylated lysosomal sulfatase enzymes, their pharmaceutical compositions, methods of producing and purifying such lysosomal sulfatase enzymes and compositions and their use in the diagnosis, prophylaxis, or treatment of diseases and conditions, including particularly lysosomal storage diseases that are caused by, or associated with, a deficiency in the lysosomal sulfatase enzyme.

公开(公告)号：US12233106B2

公开(公告)日：2025-02-25

申请号：US17811748

申请日：2022-07-11

Applicant: BIOMARIN PHARMACEUTICAL INC.

Inventor： Jonathan Day ,  Elena Fisheleva

IPC: A61K38/22 ,  A61K9/00 ,  A61K9/19 ,  A61K38/00 ,  A61K38/17 ,  A61K47/10 ,  A61K47/12 ,  A61K47/18 ,  A61P19/08 ,  C07K7/00 ,  C07K14/00

Abstract: treatment of skeletal dysplasias in children, and improvement in one or more symptoms of skeletal dysplasias, such as long bone growth or growth velocity, by administering variants of C-type natriuretic peptide (CNP) is described.

公开(公告)号：US12188058B2

公开(公告)日：2025-01-07

申请号：US17188994

申请日：2021-03-01

Applicant: BIOMARIN PHARMACEUTICAL INC.

Inventor： Erno Pungor ,  Charles Hague ,  Zhi Chen ,  Melita Dvorak-Ewell ,  Michel Claude Vellard ,  Vish Koppaka

IPC: C12N9/16 ,  C12Q1/34 ,  C12Q1/44 ,  G01N33/68 ,  A61K38/00

Abstract: This invention provides compositions of active highly phosphorylated lysosomal sulfatase enzymes, their pharmaceutical compositions, methods of producing and purifying such lysosomal sulfatase enzymes and compositions and their use in the diagnosis, prophylaxis, or treatment of diseases and conditions, including particularly lysosomal storage diseases that are caused by, or associated with, a deficiency in the lysosomal sulfatase enzyme.

公开(公告)号：US20240374688A1

公开(公告)日：2024-11-14

申请号：US18785340

申请日：2024-07-26

Applicant: BIOMARIN PHARMACEUTICAL INC.

Inventor： Sherry Bullens ,  Stuart Bunting ,  Tianwei Chou ,  Augustus O. Okhamafe ,  Christopher P. Price ,  Daniel J. Wendt ,  Clarence Yap

IPC: A61K38/22 ,  A61K9/00 ,  A61K9/19 ,  A61K38/17 ,  A61K47/10 ,  A61K47/12 ,  A61K47/18 ,  A61K47/20 ,  A61K47/26

Abstract: The present disclosure provides for use of variants of C-type natriuretic peptide (CNP), and novel pharmaceutical compositions and formulations comprising CNP variant peptides for the treatment of skeletal dysplasias, one or more symptoms of skeletal dysplasias, such as long bone growth or growth velocity, and other disorders having a skeletal dysplasia and/or CNP-associated symptom or component.

公开(公告)号：US20240317813A1

公开(公告)日：2024-09-26

申请号：US18676309

申请日：2024-05-28

Applicant: BIOMARIN PHARMACEUTICAL INC.

Inventor： Peter Cameron COLOSI ,  Michael LOCHRIE ,  Robert NG

IPC: C07K14/005 ,  A61K38/00 ,  A61K48/00 ,  A61P21/00 ,  C12N15/86

CPC classification number: C07K14/005 ,  A61P21/00 ,  C12N15/86 ,  A61K38/00 ,  A61K48/00 ,  C12N2750/14122 ,  C12N2750/14143 ,  C12N2750/14152

Abstract: The invention relates to novel adeno-associated virus (AAV) capsid proteins, AAV particles comprising a novel capsid protein, polynucleotides encoding these capsid proteins and AAV vectors expressing these capsid proteins. The invention also relates to methods of making the herein described AAV vectors expressing the novel capsid proteins of the invention and associated therapeutic uses of thereof.

公开(公告)号：US20240156914A1

公开(公告)日：2024-05-16

申请号：US18425954

申请日：2024-01-29

Applicant: BIOMARIN PHARMACEUTICAL INC.

Inventor： Sherry Bullens ,  Stuart Bunting ,  Tianwei Chou ,  Augustus O. Okhamafe ,  Christopher P. Price ,  Daniel J. Wendt ,  Clarence Yap

IPC: A61K38/22 ,  A61K9/00 ,  A61K9/19 ,  A61K38/17 ,  A61K47/10 ,  A61K47/12 ,  A61K47/18 ,  A61K47/20 ,  A61K47/26

CPC classification number: A61K38/2242 ,  A61K9/0019 ,  A61K9/19 ,  A61K38/1709 ,  A61K47/10 ,  A61K47/12 ,  A61K47/183 ,  A61K47/20 ,  A61K47/26

Abstract: The present disclosure provides for use of variants of C-type natriuretic peptide (CNP), and novel pharmaceutical compositions and formulations comprising CNP variant peptides for the treatment of skeletal dysplasias, one or more symptoms of skeletal dysplasias, such as long bone growth or growth velocity, and other disorders having a skeletal dysplasia and/or CNP-associated symptom or component.

公开(公告)号：US20230340078A1

公开(公告)日：2023-10-26

申请号：US17777690

申请日：2020-11-13

Applicant: BIOMARIN PHARMACEUTICAL INC.

Inventor： Peter COLOSI

IPC: C07K14/81 ,  C12N15/86 ,  A61K48/00 ,  A61P7/10 ,  A61K45/06

CPC classification number: C07K14/8121 ,  A61K45/06 ,  A61K48/0058 ,  A61K48/0066 ,  A61P7/10 ,  C12N15/86

Abstract: Provided herein are compositions and methods for treating a Cl esterase inhibitor deficiency by normalizing levels of the Cl esterase inhibitor protein in a subject having HAE.

公开(公告)号：US20230079913A1

公开(公告)日：2023-03-16

申请号：US17751136

申请日：2022-05-23

Applicant: BIOMARIN PHARMACEUTICAL INC.

Inventor： Bing WANG ,  Qi CHAO

IPC: C07D249/04 ,  C07D401/12 ,  C07D401/14 ,  C07D403/12 ,  C07D405/12 ,  C07D409/12 ,  C07D417/12

Abstract: Described herein are compounds, methods of making such compounds, pharmaceutical compositions and medicaments containing such compounds, and methods of using such compounds to treat or prevent diseases or disorders associated with the enzyme glycolate oxidase (GO). Such diseases or disorders include, for example, disorders of glyoxylate metabolism, including primary hyperoxaluria, that are associated with production of excessive amounts of oxalate.

公开(公告)号：US20230075854A1

公开(公告)日：2023-03-09

申请号：US17760227

申请日：2021-02-09

Applicant: BIOMARIN PHARMACEUTICAL INC.

Inventor： Michael LOCHRIE ,  Peter COLOSI ,  Barrie CARTER ,  Tomas CINEK

IPC: C12N7/00

Abstract: The invention is directed to methods of removing adventitious virus from cells and cell lines and virus-free cells and cell lines obtainable by such methods.