Shire Human Genetic Therapies, Inc Patent applications |
Patent application number | Title | Published |
20160083440 | FOLLISTATIN IN TREATING DUCHENNE MUSCULAR DYSTROPHY - The present invention provides, among other things, methods and compositions for treating muscular dystrophy, in particular, Duchenne muscular dystrophy (DMD). In some embodiments, a method according to the present invention includes administering to an individual who is suffering from or susceptible to DMD an effective amount of a recombinant follistatin protein such that at least one symptom or feature of DMD is reduced in intensity, severity, or frequency, or has delayed onset. | 03-24-2016 |
20160002705 | QUANTITATIVE ASSESSMENT FOR CAP EFFICIENCY OF MESSENGER RNA - The present invention provides, among other things, methods of quantitating mRNA capping efficiency, particularly mRNA synthesized in vitro. In some embodiments, methods according to the present invention comprise providing an mRNA sample containing capped and uncapped mRNA, providing a cap specific binding substance under conditions that permit the formation of a complex between the cap specific binding substance and the capped mRNA, and quantitatively determining the amount of the complex as compared to a control, thereby quantifying mRNA capping efficiency. | 01-07-2016 |
20150361174 | ANTI-FLT-1 ANTIBODIES IN TREATING DUCHENNE MUSCULAR DYSTROPHY - The present invention provides, among other things, methods and compositions for treating muscular dystrophy, in particular, Duchenne muscular dystrophy (DMD). In some embodiments, a method according to the present invention includes administering to an individual who is suffering from or susceptible to DMD an effective amount of an anti-Flt-1 antibody, or antigen binding fragment thereof, such that at least one symptom or feature of DMD is reduced in intensity, severity, or frequency, or has delayed onset. | 12-17-2015 |
20150328289 | TREATMENT OF COGNITIVE IMPAIRMENT OF HUNTER SYNDROME BY INTRATHECAL DELIVERY OF IDURONATE-2-SULFATASE - The present invention, provides a method of treating cognitive impairment of Hunter syndrome. Among other things, the present invention provides a method comprising a step of administering intrathecally to a subject in need of treatment a recombinant iduronate-2-sulfatase (I2S) enzyme at a therapeutically effective dose and an administration interval for a treatment period sufficient to improve, stabilize or reduce declining of one or more cognitive, adaptive, motor, and/or executive functions relative to a control | 11-19-2015 |
20150283216 | STABILIZED COMPOSITIONS OF PROTEINS HAVING A FREE THIOL MOIETY - Compositions of proteins having free thiols, and methods of making and using such compositions, are described. | 10-08-2015 |
20150031112 | Crystal structure of human alpha-n-acetylglucosaminidase - The present invention provides the three-dimensional structure of human α-N-acetylglucosaminidase (NAGLU) protein. This crystallographic information is useful in the identification and development of novel binding compounds of NAGLU, NAGLU mutants, for example, those associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B (MPS III-B)), and other NAGLU family members (family 89 α-N-acetylglucosaminidase) which may modulate the activity and/or stability of mutated NAGLU. Such compounds may be useful for the treatment of Sanfilippo syndrome type B (mucopolysaccharidosis III B (MPS III-B)). | 01-29-2015 |
20150010898 | METHODS FOR PREPARATION OF CULTURE MEDIA - Methods for preparation of culture media and production of recombinant proteins described herein. | 01-08-2015 |
20140350089 | OPTIMIZED MESSENGER RNA - The present invention is directed to a synthetic nucleic acid sequence which encodes a protein wherein at least one non-common codon or less-common codon is replaced by a common codon. The synthetic nucleic acid sequence can include a continuous stretch of at least 90 codons all of which are common codons. | 11-27-2014 |
20140302531 | ENZYMATIC ACTIVITY BASED-DETECTION - Disclosed herein are methods and kits which are useful for detecting presence of an enzyme in a test sample based upon the intrinsic enzymatic activity of such test sample. The present invention provides the ability to evaluate cell culture conditions and optimize the desired glycoform content of recombinantly prepared enzymes. | 10-09-2014 |
20140294800 | METHOD OF CHARACTERIZING LYSOSOMAL ENZYMES - The present invention provides, among other things, methods for the characterization of recombinant Heparan N-Sulfatase (HNS) during manufacture. The present invention uses capillary zone electrophoresis to determine the charge profile, isoform distribution, and/or glycan profile of recombinant HNS; and represents a quality feature for the batch consistency, storage stability, biological half-life, pharmacokinetic, pharmacodynamic and biological activity of the enzyme. In particular, such characterization methods may be beneficial to optimize conditions and ensure consistency for the manufacture of HNS for the treatment of a patient diagnosed with Sanfilippo syndrome using enzyme replacement therapy. | 10-02-2014 |
20140288160 | CLEAVABLE LIPIDS - Disclosed herein are novel compounds, pharmaceutical compositions comprising such compounds and related methods of their use. The compounds described herein are useful, e.g., as liposomal delivery vehicles to facilitate the delivery of encapsulated polynucleotides to target cells and subsequent transfection of said target cells, and in certain embodiments are characterized as having one or more properties that afford such compounds advantages relative to other similarly classified lipids. | 09-25-2014 |
20140275222 | ANTISENSE OLIGONUCLEOTIDE MODULATORS OF SEROTONIN RECEPTOR 2C AND USES THEREOF - The present invention provides, among other things, oligonucleotide modulators of human 5′-HT2C receptor (HTR2C) and improved methods and composition for treating HTR2C-related diseases, disorders or conditions based on such modulators. In particular, oligonucleotides modulators according to the invention target specific regions in the Exon V/Intron V junction of the human HTR2C pre-mRNA and drive expression of HTR2C Vb splice isoform, leading to increased generation of non-edited strong HTR2C receptor and enhanced serotonin receptor activity. | 09-18-2014 |
20140271598 | METHODS AND COMPOSITIONS FOR CNS DELIVERY OF IDURONATE-2-SULFATASE - The present invention provides, among other things, compositions and methods for CNS delivery of lysosomal enzymes for effective treatment of lysosomal storage diseases. In some embodiments, the present invention includes a stable formulation for direct CNS intrathecal administration comprising an iduronate-2-sulfatase (I2S) protein, salt, and a polysorbate surfactant for the treatment of Hunters Syndrome. | 09-18-2014 |
20140242061 | COMPOSITIONS AND METHODS FOR TREATING GAUCHER DISEASE - Methods and compositions for treating Gaucher disease are described. | 08-28-2014 |
20140220595 | COMPETITION-BASED DETECTION ASSAYS - Disclosed herein are methods and kits which are useful for detecting presence of an enzyme and the relative amount of glycan associated with the enzyme in a test sample based upon the enzyme's ability to competitively inhibit the binding of a ligand in such test sample. The present invention provides the ability to evaluate cell culture conditions and optimize the desired glycoform content of recombinantly prepared enzymes. | 08-07-2014 |
20140219987 | STABILIZED COMPOSITIONS OF PROTEINS HAVING A FREE THIOL MOIETY - Compositions of proteins having free thiols, and methods of making and using such compositions, are described. | 08-07-2014 |
20140206753 | LIPID NANOPARTICLE COMPOSITIONS AND METHODS FOR MRNA DELIVERY - Disclosed herein are compositions and methods for modulating the production of a protein in a target cell. The compositions and methods disclosed herein are capable of ameliorating diseases associated with protein or enzyme deficiencies. | 07-24-2014 |
20140205585 | METHODS FOR PURIFICATION OF ARYLSULFATASE A - Methods of producing arylsulfatase A are described herein. The methods can include one or more steps of chromatography. Exemplary chromatographic steps include ion exchange chromatography, mixed mode chromatography, and hydrophobic interaction chromatography. Compositions containing and methods using arylsulfatase A produced by the methods described herein are also disclosed. | 07-24-2014 |
20140187502 | PEPTIDE LINKERS FOR POLYPEPTIDE COMPOSITIONS AND METHODS FOR USING SAME - Disclosed herein are novel peptide linkers and polypeptide compositions comprising the linkers (e.g., chimeric polypeptides) and methods of using the polypeptide compositions. The compositions and methods are particularly useful for targeting/delivering a polypeptide or protein of interest (e.g., a therapeutic polypeptide) to a cell, tissue or organ of interest in order to treat various diseases or disorders (e.g., lysosomal storage disorders). | 07-03-2014 |
20140135275 | MITOCHONDRIAL TARGETING AND THERAPEUTIC USE THEREOF - The present invention provides, among other things, compositions and methods for treatment of Friedrich's Ataxia based on effective targeting of a therapeutic moiety to mitochondria that can substitute for natural FXN protein activity or rescue one or more phenotypes or symptoms associated with frataxin-deficiency. In some embodiments, the present invention provides a targeted therapeutic comprising a therapeutic moiety, which is a polypeptide having an N-terminus and a C-terminus, a mitochondrial targeting sequence associated with the therapeutic moiety at the N-terminus, and a mitochondrial membrane-penetrating peptide associated with the therapeutic moiety at the C-terminus, wherein the therapeutic moiety is targeted to mitochondria upon cellular entry. | 05-15-2014 |
20140057296 | ASSAYS FOR ANTIBODIES WHICH BIND TO THERAPEUTIC AGENTS - Methods and kits for determining the presence in a patient biological sample of an antibody which binds to an agent (e.g., an enzyme administered in the course of ERT), and optionally determining the neutralizing effect or lack thereof of the antibody on the agent are disclosed. | 02-27-2014 |
20140037612 | SUBCUTANEOUS ADMINISTRATION OF ALPHA-GALACTOSIDASE A - The invention relates, in part, to improved methods of administering α-galactosidase A for the treatment of α-galactosidase A deficiencies including Fabry disease. | 02-06-2014 |
20130337482 | ASSAYS AND KITS TO DETERMINE GALACTOCEREBROSIDASE ACTIVITY ON SOLID SUPPORT - The present invention discloses compositions, methods, assays and kits which provide for rapid, high-throughput and sensitive assays useful for detecting the activity of galactocerebrosidase (GALC) in a test sample. The methods, assays and kits of the present invention provide useful diagnostic tools which may be used to identify subjects suspected of having an enzyme deficiency and to evaluate the efficacy of enzyme replacement therapy. | 12-19-2013 |
20130195967 | LIVER SPECIFIC DELIVERY OF MESSENGER RNA - Disclosed herein are compositions and methods of modulating the expression of gene or the production of a protein by transfecting target cells with nucleic acids. The compositions disclosed herein demonstrate a high transfection efficacy and are capable of ameliorating diseases associated with protein or enzyme deficiencies. | 08-01-2013 |
20130195836 | MANNOSE RECEPTOR C TYPE 1 (MRC1) CODON OPTIMIZED CELL LINE AND USES THEREOF - Described herein are isolated nucleic acid molecules comprising nucleotide sequence encoding mannose receptor, C type 1 (MRC1) wherein the 5′ region of the nucleotide sequence encoding MRC1 is codon optimized; cells comprising such nucleic acid molecules; and methods of detecting antibody production, e.g., neutralizing antibody production, in a subject being treated for Gaucher disease using such cells. | 08-01-2013 |
20130189718 | ASSAYS FOR DETECTION OF GLYCOSAMINOGLYCANS - Disclosed herein are novel methods, assays and kits useful for the diagnosis and monitoring of subjects with mucopolysaccharidoses (MPS), The methods, assays and kits are particularly useful for detecting the presence of one or more glycosaminoglycans which correlate to MPS and its severity in a variety of biological samples. | 07-25-2013 |
20130172403 | GENE THERAPY FOR SULFATASE DEFICIENCY - This invention relates to methods and compositions for the diagnosis and treatment of Multiple Sulfatase Deficiency (MSD) as well as other sulfatase deficiencies. More specifically, the invention relates to isolated molecules that modulate post-translational modifications on sulfatases. Such modifications are essential for proper sulfatase function. | 07-04-2013 |
20130166313 | SYSTEMS AND METHODS FOR MANAGING TREATMENT OF AN ORPHAN DISEASE - A system for managing treatment of an orphan disease of a patient by a user includes a mobile device and a program stored thereon. The mobile device is constructed and adapted to communicate with at least one server. The program stores one or more parameters related to the treatment of the orphan disease, tracks the parameters, and communicates information related to the treatment of the orphan disease with a health care provider, a company, and/or a case manager. | 06-27-2013 |
20130121984 | BIOMARKERS FOR SANFILIPPO SYNDROME AND USES THEREOF - The present invention provides biomarkers for efficient and accurate characterization of Sanfilippo syndrome. In particular, the present invention provides biomarkers differentially expressed in Sanfilippo syndrome. Those biomarkers, used alone or in combination, may permit more accurate robust characterization of Sanfilippo syndrome, resulting in more precise determination of the types and/or severity of the syndrome. In addition, inventive biomarkers according to the present invention can be used to effective monitor treatment response in Sanfilippo syndrome patients and/or to optimize treatment for Sanfilippo syndrome. | 05-16-2013 |
20130028881 | DIAGNOSIS AND TREATMENT OF MULTIPLE SULFATASE DEFICIENCY AND OTHER SULFATASE DEFICIENCIES - This invention relates to methods and compositions for the diagnosis and treatment of Multiple Sulfatase Deficiency (MSD) as well as other sulfatase deficiencies. More specifically, the invention relates to isolated molecules that modulate post-translational modifications on sulfatases. Such modifications are essential for proper sulfatase function. | 01-31-2013 |
20120021436 | Crystal structure of human alpha-N-acetylglucosaminidase - The present invention provides the three-dimensional structure of human α-N-acetylglucosaminidase (NAGLU) protein. This crystallographic information is useful in the identification and development of novel binding compounds of NAGLU, NAGLU mutants, for example, those associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B (MPS III-B)), and other NAGLU family members (family 89 α-N-acetylglucosaminidase) which may modulate the activity and/or stability of mutated NAGLU. Such compounds may be useful for the treatment of Sanfilippo syndrome type B (mucopolysaccharidosis III B (MPS III-B)). | 01-26-2012 |
20120014936 | METHODS AND COMPOSITIONS FOR CNS DELIVERY OF HEPARAN N-SULFATASE - The present invention provides, among other things, compositions and methods for CNS delivery of lysosomal enzymes for effective treatment of lysosomal storage diseases. In some embodiments, the present invention includes a stable formulation for direct CNS intrathecal administration comprising a heparan N-sulfatase (HNS) protein, salt, and a polysorbate surfactant for the treatment of Sanfilippo Syndrome Type A. | 01-19-2012 |
20120009171 | METHODS AND COMPOSITIONS FOR CNS DELIVERY OF ARYLSULFATASE A - The present invention provides, among other things, compositions and methods for CNS delivery of lysosomal enzymes for effective treatment of lysosomal storage diseases. In some embodiments, the present invention includes a stable formulation for direct CNS intrathecal administration comprising an arylsulfatase A (ASA) protein, salt, and a polysorbate surfactant for the treatment of Metachromatic Leukodystrophy Disease. | 01-12-2012 |
20120003202 | CNS DELIVERY OF THERAPEUTIC AGENTS - The present invention provides an effective and less invasive approach for direct delivery of therapeutic agents to the central nervous system (CNS). In some embodiments, the present invention provides methods including a step of administering intrathecally to a subject suffering from or susceptible to a lysosomal storage disease associated with reduced level or activity of a lysosomal enzyme, a composition comprising a replacement enzyme for the lysosomal enzyme. | 01-05-2012 |
20110318327 | TREATMENT OF SANFILIPPO SYNDROME TYPE B - Among other things, the present invention provides methods and compositions of treating Sanfilippo syndrome type B (Sanfilippo B) by, e.g., intrathecal (IT) administration of a Naglu protein. A suitable Naglu protein can be a recombinant, gene-activated or natural protein. In some embodiments, a suitable Naglu protein is a recombinant Naglu protein. In some embodiments, a recombinant Naglu protein is a fusion protein containing a Naglu domain and a lysosomal targeting moiety. In some embodiments, the lysosomal targeting domain is an IGF-II moiety. | 12-29-2011 |
20110318324 | METHODS AND COMPOSITIONS FOR CNS DELIVERY OF B-GALACTOCEREBROSIDASE - The present invention provides, among other things, compositions and methods for CNS delivery of lysosomal enzymes for effective treatment of lysosomal storage diseases. In some embodiments, the present invention includes a stable formulation for direct CNS intrathecal administration comprising an B-Galactocerebrosidase protein, salt, and a polysorbate surfactant for the treatment of GLD Disease. | 12-29-2011 |
20110318323 | METHODS AND COMPOSITIONS FOR CNS DELIVERY OF IDURONATE-2-SULFATASE - The present invention provides, among other things, compositions and methods for CNS delivery of lysosomal enzymes for effective treatment of lysosomal storage diseases. In some embodiments, the present invention includes a stable formulation for direct CNS intrathecal administration comprising an iduronate-2-sulfatase (I2S) protein, salt, and a polysorbate surfactant for the treatment of Hunters Syndrome. | 12-29-2011 |
20100291060 | SUBCUTANEOUS ADMINISTRATION OF ALPHA-GALACTOSIDASE A - The invention relates, in part, to improved methods of administering α-galactosidase A for the treatment of α-galactosidase A deficiencies including Fabry disease. | 11-18-2010 |
20100143314 | In Vivo Production and Delivery of Erythropoietin or Insulinotropin for Gene Therapy - The present invention relates to transfected primary and secondary somatic cells of vertebrate origin, particularly mammalian origin, transfected with exogenous genetic material (DNA) which encodes erythropoietin or an insulinotropin [e.g., derivatives of glucagon-like peptide 1 (GLP-1)], methods by which primary and secondary cells are transfected to include exogenous genetic material encoding erythropoietin or an insulinotropin, methods of producing clonal cell strains or heterogenous cell strains which express erythropoietin or an insulinotropin, methods of gene therapy in which the transfected primary or secondary cells are used, and methods of producing antibodies using the transfected primary or secondary cells. The present invention also includes primary and secondary somatic cells, such as fibroblasts, keratinocytes, epithelial cells, endothelial cells, glial cells, neural cells, formed elements of the blood, muscle cells, other somatic cells, which can be cultured and somatic cell precursors, which have been transfected with exogenous DNA encoding EPO or an insulinotropin, which is stably integrated into their genomes or is expressed in the cells episomally. | 06-10-2010 |