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.
Abstract: Described herein are compounds of Formula I, methods of making such compounds, pharmaceutical compositions and medicaments containing such compounds, and methods of using such compounds to treat or prevent diseases or conditions associated with the enzyme glucosylceramide synthase (GCS).
Abstract: The present invention provides further improved compositions and methods for efficient lysosomal targeting based on the GILT technology. Among other things, the present invention provides methods and compositions for targeting lysosomal enzymes to lysosomes using furin-resistant lysosomal targeting peptides. The present invention also provides methods and compositions for targeting lysosomal enzymes to lysosomes using a lysosomal targeting peptide that has reduced or diminished binding affinity for the insulin receptor.
Abstract: The present disclosure relates in general to therapeutic lysosomal enzyme fusion proteins useful for treating lysosomal storage diseases, liquid formulations comprising such fusion proteins and associated methods useful for treating lysosomal storage diseases in mammals.
Type:
Grant
Filed:
February 24, 2017
Date of Patent:
May 31, 2022
Assignee:
BIOMARIN PHARMACEUTICAL INC.
Inventors:
Saeed Moshashaee, Jason K. Pinkstaff, Adam Shaywitz, Natalie Ciaccio
Abstract: The present invention relates to cell-based methods for screening body fluids or tissues for factors that prevent cellular uptake of lysosomal enzymes, including neutralizing factors such as neutralizing antibodies, that arise as a result of lysosomal enzyme replacement therapy.
Type:
Grant
Filed:
November 7, 2016
Date of Patent:
March 1, 2022
Assignee:
BIOMARIN PHARMACEUTICAL INC.
Inventors:
Andrew Melton, Stephen Zoog, Lynne Jesaitis
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.
Type:
Grant
Filed:
April 8, 2019
Date of Patent:
February 22, 2022
Assignee:
BIOMARIN PHARMACEUTICAL INC.
Inventors:
Mika Aoyagi-Scharber, Teresa Margaret Christianson, Melita Dvorak-Ewell, Daniel J. Wendt, Shinong Long, Jonathan LeBowitz, Daniel Solomon Gold
Abstract: Formulations comprising recombinant human tripeptidyl peptidase-1 (rhTPP1) for intrathecal, intracerebroventricular, or intraocular administration, and kits comprising the same, are disclosed. Methods of using rhTPP1 in the prevention and treatment of symptoms of Neuronal Ceroid Lipofuscinosis (CLN2) disease are also disclosed. The formulations and methods are effective in halting the progression of CLN2 disease and may be used to treat subjects having CLN2 or a family history of CLN2.
Type:
Grant
Filed:
July 28, 2020
Date of Patent:
January 25, 2022
Assignee:
BIOMARIN PHARMACEUTICAL INC.
Inventors:
Thomas Lester, Saeed Moshashaee, Augustus O. Okhamafe, Charles A. O'Neill
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.
Type:
Grant
Filed:
December 8, 2016
Date of Patent:
December 21, 2021
Assignee:
BIOMARIN PHARMACEUTICAL INC.
Inventors:
Charles A. O'Neill, Todd M. Oppeneer, Jason K. Pinkstaff
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 ?-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.
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.
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.
Type:
Grant
Filed:
February 6, 2020
Date of Patent:
March 2, 2021
Assignee:
BIOMARIN PHARMACEUTICAL INC.
Inventors:
Erno Pungor, Charles Hague, Zhi Chen, Melita Dvorak-Ewell, Michel Claude Vellard, Vish Koppaka
Abstract: Provided herein are methods of diagnosing or monitoring the treatment of abnormal glycan accumulation or a disorder associated with abnormal glycan accumulation.
Type:
Application
Filed:
May 8, 2020
Publication date:
January 28, 2021
Applicant:
BIOMARIN PHARMACEUTICAL INC.
Inventors:
Brett E. CRAWFORD, Jillian R. BROWN, Charles A. GLASS, Jim R. BEITEL, Robin M. JACKMAN
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.
Type:
Application
Filed:
May 4, 2020
Publication date:
January 21, 2021
Applicant:
BIOMARIN PHARMACEUTICAL INC.
Inventors:
Brett E. CRAWFORD, Jillian R. BROWN, Charles A. GLASS
Abstract: The present disclosure relates, in general, to methods for readministering, or redosing, a subject having undergone a first gene therapy regimen with a second, or subsequent, administration of a gene therapy regimen, wherein the first gene therapy vector and second gene therapy vector comprise different AAV capsids but carry a transgene or polynucleotide useful to treat the same disease or disorder.
Type:
Application
Filed:
May 13, 2020
Publication date:
November 19, 2020
Applicant:
BIOMARIN PHARMACEUTICAL INC.
Inventors:
Peter COLOSI, Justin ISHIDA, Silvia RAMIREZ
Abstract: Provided herein are methods of diagnosing or monitoring the treatment of abnormal glycan accumulation or a disorder associated with abnormal glycan accumulation.
Type:
Grant
Filed:
February 20, 2019
Date of Patent:
October 6, 2020
Assignee:
BIOMARIN PHARMACEUTICAL INC.
Inventors:
Brett E. Crawford, Jillian R. Brown, Charles A. Glass, Jim R. Beitel, Robin M. Jackman
Abstract: The present disclosure relates in general to therapeutic lysosomal enzyme fusion proteins useful for treating lysosomal storage diseases, liquid formulations comprising such fusion proteins and associated methods useful for treating lysosomal storage diseases in mammals.
Type:
Application
Filed:
February 24, 2017
Publication date:
September 24, 2020
Applicant:
BIOMARIN PHARMACEUTICAL INC.
Inventors:
SAEED MOSHASHAEE, JASON K. PINKSTAFF, ADAM SHAYWITZ, NATALIE CIACCIO
Abstract: Formulations comprising recombinant human tripeptidyl peptidase-1 (rhTPP1) for intrathecal, intracerebroventricular, or intraocular administration, and kits comprising the same, are disclosed. Methods of using rhTPP1 in the prevention and treatment of symptoms of Neuronal Ceroid Lipofuscinosis (CLN2) disease are also disclosed. The formulations and methods are effective in halting the progression of CLN2 disease and may be used to treat subjects having CLN2 or a family history of CLN2.
Type:
Grant
Filed:
March 28, 2019
Date of Patent:
September 1, 2020
Assignee:
BioMarin Pharmaceutical Inc.
Inventors:
Thomas Lester, Saeed Moshashaee, Augustus O. Okhamafe, Charles A. O'Neill
Abstract: The present disclosure provides variants of C-type natriuretic peptide (CNP), pharmaceutical compositions comprising CNP variants, and methods of making CNP variants. The CNP variants are useful as therapeutic agents for the treatment of diseases responsive to CNP, including but not limited to bone-related disorders, such as skeletal dysplasias (e.g., achondroplasia), and vascular smooth muscle disorders (e.g., restenosis and arteriosclerosis).
Type:
Grant
Filed:
July 11, 2017
Date of Patent:
October 20, 2020
Assignee:
BioMarin Pharmaceutical Inc.
Inventors:
Daniel J. Wendt, Shinong Long, Sianna Castillo, Christopher P. Price, Mika Aoyagi-Scharber, Michel Claude Vellard, Augustus O. Okhamafe