公开(公告)号：US20250122530A1

公开(公告)日：2025-04-17

申请号：US18688688

申请日：2022-09-02

Applicant: BIOMARIN PHARMACEUTICAL INC.

Inventor： Peter COLOSI ,  Vincent LEONARD ,  Silvia RAMIREZ ,  Justin ISHIDA ,  Yu-Shan TSENG ,  Teague STERLING

IPC: C12N15/86 ,  C07K14/005

Abstract: The disclosure provides various compositions comprising novel adeno-associated virus (AAV) capsid sequences and functional fragments thereof. Also provided, are methods of delivery, treatment and manufacture using the compositions provided by the disclosure.

公开(公告)号：US12214015B2

公开(公告)日：2025-02-04

申请号：US17541992

申请日：2021-12-03

Applicant: BIOMARIN PHARMACEUTICAL INC.

Inventor： Charles A. O'Neill ,  Todd M. Oppeneer ,  Jason K. Pinkstaff

IPC: A61K38/22 ,  A61K9/19 ,  A61K31/573 ,  A61K31/728 ,  A61P19/02 ,  C07K14/58

Abstract: The disclosure relates to the use of variants of C-type natriuretic peptide (CNP) to treat osteoarthritis, to ameliorate one or more symptoms of osteoarthritis, and to treat disorders having an osteoarthritis component.

公开(公告)号：US11911446B2

公开(公告)日：2024-02-27

申请号：US16837905

申请日：2020-04-01

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

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：US20230407328A1

公开(公告)日：2023-12-21

申请号：US18034766

申请日：2021-11-02

Applicant: BioMarin Pharmaceutical Inc.

Inventor： John MAGA ,  Harmit VORA ,  Rahul SHETH ,  Daniel GOLD ,  Anant RISHI ,  Yanhong ZHANG ,  Kieu TRAN

IPC: C12N15/86 ,  C07K1/36

CPC classification number: C12N15/86 ,  C07K1/36 ,  C12N2750/14143 ,  C12N2750/14151

Abstract: The present invention provides process for enriching adeno-associated virus particles using anion exchange chromatography and zonal ultracentrifugation.

公开(公告)号：US20230348909A1

公开(公告)日：2023-11-02

申请号：US18192480

申请日：2023-03-29

Applicant: BioMarin Pharmaceutical Inc.

Inventor： Steven Michael Froelich ,  Josh Christopher Woloszynek ,  Jenna-Marie Magat ,  Judith Christina Theodora van Deutekom ,  Peter Christian de Visser ,  Nicole Anne Datson

IPC: C12N15/113 ,  A61P21/00

CPC classification number: C12N15/113 ,  A61P21/00 ,  C12N2310/321 ,  C12N2310/3231 ,  C12N2310/3341 ,  C12N2310/315 ,  C12N2310/11

Abstract: Provided herein are antisense oligonucleotides (AONs) that induce skipping of exon 51 of human dystrophin pre-mRNA, and pharmaceutically acceptable derivatives thereof. Also provided are pharmaceutical compositions containing the AONs and methods of using the AONs and compositions for treating a subject with Duchenne muscular dystrophy.

公开(公告)号：US20220373249A1

公开(公告)日：2022-11-24

申请号：US17771533

申请日：2020-11-13

Applicant: BIOMARIN PHARMACEUTICAL INC.

Inventor： Richard WISNIEWSKI ,  Saeed MOSHASHAEE ,  Pooja SANE

IPC: F25D25/00 ,  F25D15/00 ,  F25D17/06 ,  F25D3/10 ,  B65D1/38

Abstract: Containers are provided herein for facilitating freezing, thawing, and/or storage of products that may be perishable, such as pharmaceuticals. The containers can include shells that enclose the product, and that include apertures permitting flow of a fluid through the containers' internal volume. The temperature of the fluid can be selected so as to freeze or thaw the product. The container optionally can include pressure building members that control the flow of the fluid through the containers' inner volume, e.g., increase the fluid flow rate and thus increase the rate with which the fluid is frozen or thawed.

公开(公告)号：US11505790B2

公开(公告)日：2022-11-22

申请号：US16246300

申请日：2019-01-11

Applicant: BIOMARIN PHARMACEUTICAL INC.

Inventor： Augustus O. Okhamafe ,  Sean M. Bell ,  G. Nick Zecherle ,  Kris Antonsen ,  Yanhong Zhang ,  Kieu Ly Tran ,  Paul A. Fitzpatrick ,  Emil D. Kakkis ,  Michel Claude Vellard ,  Daniel J. Wendt ,  Mubarack Muthalif

IPC: C12N9/88 ,  C07K1/14 ,  A61K38/51 ,  A61K47/60 ,  A61K9/00

Abstract: Provided herein are phenylalanine ammonia-lyase (PAL) variants produced by prokaryotes, wherein such prokaryotic PAL variant has a greater phenylalanine-converting activity and/or a reduced immunogenicity as compared to a wild-type PAL. Further provided are compositions of prokaryotic PAL and biologically active fragments, mutants, variants or analogs thereof, as well as methods for the production, purification, formulation, and use of such compositions for industrial and therapeutic purposes, e.g., treating hyperphenylalaninemia, including phenylketonuria, and other disorders, including cancer.

公开(公告)号：US11406690B2

公开(公告)日：2022-08-09

申请号：US16588130

申请日：2019-09-30

Applicant: BIOMARIN PHARMACEUTICAL INC. ,  UCL BUSINESS PLC ,  ST. JUDE CHILDREN'S RESEARCH HOSPITAL

Inventor： Peter Cameron Colosi ,  Amit Nathwani ,  Jenny McIntosh ,  Edward Tuddenham ,  Andrew Davidoff

IPC: A01N63/00 ,  A61K38/37 ,  A61K48/00 ,  C12N7/00 ,  C07K14/755 ,  C12N15/86

Abstract: The present disclosure provides methods of generating multiplexed genetically modified animals, for example, porcine endogenous retrovirus (PERV)-inactivated pigs. The disclosure also provides methods of improving the birth rate of multiplexed genetically modified animals. In some embodiments, the present closure is concerned with the generation and utilization of porcine cells in which porcine endogenous retroviral (PERV) elements have been inactivated. In sonic embodiments, the PERV-free or PERV-reduced porcine cells are cloned to produce porcine embryos. In some embodiments, the PERV-free or PERV-reduced embryos may be grown into adult swine from which organs and/or tissues may be extracted and used for such purposes as xenotransplantation into non-porcine animals such as humans.

公开(公告)号：US11040088B2

公开(公告)日：2021-06-22

申请号：US15400289

申请日：2017-01-06

Applicant: BioMarin Pharmaceutical Inc.

Inventor： Emil D. Kakkis

IPC: A61K9/00 ,  A61K38/46 ,  A61K38/47

Abstract: The present invention relates to the intrathecal (IT) administration of recombinant enzyme to treat lysosomal storage disorders. In an exemplary embodiment, intrathecal administration of human α-L-iduronidase (rhIDU) injections in MPS I affected animals resulted in significant enzyme uptake, significant rh-iduronidase activity in brain and meninges and a decrease of glycosaminoglycan (GAG) storage in cells of MPS I subjects to that of normal subjects. Intrathecal administration proved more effective than intravenous treatment at alleviating MPS I symptoms, indicating it is a useful method of treating lysosomal storage disorders.

公开(公告)号：US20210017570A1

公开(公告)日：2021-01-21

申请号：US16866397

申请日：2020-05-04

Applicant: BIOMARIN PHARMACEUTICAL INC.

Inventor： Brett E. CRAWFORD ,  Jillian R. BROWN ,  Charles A. GLASS

IPC: C12Q1/527 ,  C07H3/06 ,  C07H3/04 ,  C07H13/04 ,  C07H5/06 ,  A61K31/702 ,  A61B5/00 ,  C12N9/88 ,  G01N33/66 ,  C07H7/033 ,  C07H11/00

Abstract: Provided herein are processes for detecting oligosaccharides in a biological sample. In specific instances, the biological sample is provided from an individual suffering from a disorder associated with abnormal glycosaminoglycan accumulation.