76 results about "Lysosomal enzyme defect" patented technology

Aspects of the disclosure relate to complexes comprising an anti-TfR1 antibody covalently linked (e.g., via a linker such as a peptide linker) to a lysosomal enzyme (e.g., an acid alpha glucosidase enzyme), and methods of making and using the fusion complexes to treat a lysosomal storage disease (e.g., Pompe disease).

The invention provides regulatory elements, as well as vectors containing the same that may be used to stimulate transcription of a gene of interest in certain tissue types. The transcription regulatory elements described herein may be operably linked to a transgene, such as acid alpha-glucosidase (GAA), so as to promote expression of the GAA transgene in a cell, such as a muscle cell, liver cell, or neuron. The transcription regulatory elements described herein may be operably linked to a therapeutic transgene and used for the treatment of various disorders, such as lysosomal storage diseases, and particularly Pompe disease.

The present invention relates to mRNA, mRNA compositions, kits and uses thereof for the treatment of lysosomal storage diseases. In one aspect, the present invention relates to the treatment of Niemann-Pick type C disease.

The present invention relates to Compounds of Formula I: and pharmaceutically acceptable salts or prodrug thereof. The present invention also relates to compositions comprising at least one compound of Formula I, and methods of using the compounds of Formula I for treatment or prophylaxis of lysosomal storage diseases, neurodegenerative disease, cystic disease, cancer, or a diseases or disorders associated with elevated levels of glucosylceramide (GlcCer), glucosylsphingosine (GlcSph) and / or other glucosylceramide-based glycosphingolipids (GSLs).

This disclosure provides compositions and methods for the treatment of inherited metabolic disorders in a subject. Provided herein are compositions and methods to treat Lysosomal Storage Diseases (LSD) in a subject using myeloid cells.

The invention relates to the preparation of an active highly phosphorylated human lysosomal sulfatase enzyme and an application thereof. The present invention provides, inter alia, compositions of active highly phosphorylated lysosomal sulfatase enzymes, pharmaceutical compositions thereof, methods of producing and purifying such lysosomal sulfatase enzymes, and their use in the diagnosis, prevention or treatment of diseases and disorders, including, inter alia, lysosomal storage disorders caused by or associated with a lack of lysosomal sulfatase enzymes.

The present invention aims to provide a novel pharmaceutical composition that can be used for the treatment or prevention of lysosomal storage diseases, particularly Niemann-Pick disease. [Solution] The present invention provides a pharmaceutical composition for the treatment or prevention of lysosomal storage diseases, characterized by containing a modified γ-cyclodextrin as an active ingredient, wherein the modified γ-cyclodextrin has a monovalent group derived from galacturonic acid that is bonded to a sugar residue of the γ-cyclodextrin via an amide bond.

The invention provides compositions and methods for the treatment of lysosomal storage diseases such as metachromatic leukodystrophy and related disorders. A significant unmet clinical need still exists with the current clinical lentiviral vectors due to the high integration requirement and currently insufficient levels of ARSA expression to correct onset of early symptomatic disease. Methods and compositions for producing a protein such as sulfatase and for treating a disease or disorder such as metachromatic leukodystrophy and related disorders are disclosed.

The present invention provides a novel compound represented by Chemical Formula 1, an optical isomer thereof, or a pharmaceutically acceptable salt thereof. With an excellent inhibitory activity against PIKfyve, the novel compound of the present invention is useful as a therapeutic agent for PIKfyve activity-related cancer disease, inflammatory disease, or lysosomal storage disease.

Disclosed herein are compositions for and methods of treating and / or preventing disease progression for one or more lysosomal storage diseases.

The present disclosure provides methods for treating, preventing, alleviating, inhibiting, or delaying the onset of Like's syndrome in a subject in need thereof, and methods for alleviating, inhibiting, alleviating, inhibiting, or delaying the onset of related signs and / or symptoms of Like's syndrome, the methods comprise administering to the subject various compounds, mixtures of compounds, or compositions, formulations, or medicaments derived therefrom. The disclosure further provides compositions, formulations, or medicaments and related uses for treating, preventing, alleviating, inhibiting, or delaying the onset of Like's syndrome in a subject and addressing signs and / or symptoms associated therewith.

The present invention relates to a mutated transcription factor EB (TFEB) protein that loses the native exon 3. This protein is referred to herein as "TFEB-ex3" or "ex3-TFEB". The invention also relates to polynucleotides encoding such muteins; a vector comprising the polynucleotide; and a biomolecular means for removing TFEB exon 3 in a patient in need thereof. The invention also relates to a pharmaceutical composition comprising the above, for use in the treatment and / or prevention of lysosomal storage diseases and conditions characterized by lysosomal dysfunction.

To provide improved methods for treating lysosomal storage disorders (LSDs).SOLUTION: The present invention provides acetyl-leucine, or a pharmaceutically acceptable salt thereof, for use in a method of treating a lysosomal storage disorder (LSD) or one or more symptoms associated with a LSD in a subject in need thereof, wherein the LSD is not Niemann-Pick Type C.SELECTED DRAWING: Figure 9A

Provided herein are pharmaceutical compositions comprising a pharmaceutically acceptable carrier or diluent and a compound represented by Formula (I): # imgabs0 # or a pharmaceutically acceptable salt thereof, which are useful for activating TFEB and treating a variety of diseases or conditions such as lysosomal storage disease.

The present invention is in the field of medicine. More specifically, the present invention relates to extracellular vesicles, namely lipid nanoparticles that are conjugated to a biomolecule, namely an antibody or a nanobody, using a click reaction. Such extracellular vesicles can be applied for more effective treatment of diseases, in particular in vivo CAR T therapy, cardiac fibrosis and lysosomal storage diseases (LSD).

Disclosed herein are compounds that stabilize recombinant human α-iduronidase (rh-α-IDUA) activity, and their uses in the treatment and / or prophylaxis of lysosomal storage diseases (LSDs), such as mucopolysaccharidosis type I (MPS1). The compound disclosed herein has the structure of formula (I),wherein, n is an integral between 0 and 2; X1 is O or —NH; X2 is O, —NH or —NRa, inwhich Ra is C1-10alkyl; Y is H orwherein m and p are independently 0 or 1; X3 is S, O, or —NH; X4 is O, —NH, methylene, or —CH2(C1-10)alkyl; and A is aryl, heteroaryl, or heterocyclyl optionally substituted with one or more substituent selected from the group consisting of halo, hydroxyl, amino and phosphate.

A method for treating lysosomal storage disease in an individual is provided, comprising administering to the individual a ketogenic agent, a composition comprising a mixture of metabolic enhancing agents, or administering both the ketogenic agent and the metabolic enhancing composition. The treatment is effective to improve muscle function, autophagic activity and / or mitochondrial capacity in an individual having a lysosomal storage disease.

The invention relates to the field of biotechnology, and more particularly to a pharmaceutical composition and a method for the prophylaxis and treatment of a lysosomal enzyme deficiency in a subject, which can be used in medicine. The present invention relates to an HIR-Fab-IDS compound that can be used for the prophylaxis or treatment of a lysosomal enzyme deficiency in a subject suffering from a lysosomal storage disease in the form of mucopolysaccharidosis type II (MPS II), wherein at least one dose of said HIR-Fab-IDS compound is administered to the subject in an amount of from 1 to 12 mg / kg, and further relates to a pharmaceutical composition for use in the prophylaxis or treatment of a lysosomal enzyme deficiency in a subject with the lysosomal storage disease MPS II, wherein the composition contains said HIR-Fab-IDS compound, as well as to a method for the prophylaxis or treatment of a lysosomal enzyme deficiency in a subject with the lysosomal storage disease MPS II, which includes administering at least one dose of said HIR-Fab-IDS compound to the patient.

Compositions and methods for treating lysosomal storage diseases are disclosed. Biotherapeutic complexes containing an internalization effector binding domain and a lysosomal replacement enzyme activity are disclosed. The biotherapeutic complexes are capable of entering cells, segregating to the lysosome, and delivering the replacement enzyme activity to the lysosome.

Compositions and methods for delivering a therapeutic protein to the central nervous system (CNS), in order to treat diseases and disorders that impair the CNS, such as treating lysosomal storage diseases are disclosed. Therapeutic proteins delivered via a therapeutically effective amount of a nucleotide composition encoding the therapeutic protein conjugated to a cell surface receptor-binding protein that crosses the blood brain barrier (BBB) are provided.

The invention belongs to the field of inspection, and particularly relates to a composite marker for detecting biomarkers related to lysosomal storage diseases based on UPLC-MS / MS. The composite marker comprises a marker and an isotope internal standard substance, wherein the marker comprises glucosyl sphingosine, spherical glycosyl sphingosine, hemolytic sphingomyelin, N-palmitoyl-O-phosphorylcholine-serine, 7-ketocholesterol, cholestane-3, 5, 6-triol, galactosyl sphingosine, C26-ceramide, hemolytic GM1 ganglioside and hemolytic GM2 ganglioside, and the molecular weight of the marker is 8000-9000. The isotope internal standard substance is prepared from < 13 > C < 6 >-glucosyl sphingosine, D7-spherical glycosyl sphingosine, D9-lysosphingomyelin, D9-N-palmitoyl-O-phosphorylcholine-serine, D7-7-ketocholesterol, D7-cholestane-3, 5, 6-triol and D5-galactosyl sphingosine. The invention also comprises a UPLC-MS / MS method for detecting the composite marker. According to the invention, simultaneous detection of multiple biomarkers related to lysosomal storage diseases is realized, and the method is simple and convenient to operate, high in flux and low in cost.

Provided are a modified-type neuraminidase, a gene encoding the modified-type neuraminidase, a combination of the modified-type neuraminidase and cathepsin A, a combination of the gene encoding the modified-type neuraminidase and a gene encoding cathepsin A, a vector including said genes, and a pharmaceutical composition containing same. The pharmaceutical composition can be used for the therapy of lysosomal storage disease.

The present disclosure provides a method of detecting an anti-lysosomal enzyme antibody in a human subject (e.g., in the presence of a circulating lysosomal enzyme) and a method of increasing the efficacy of an anti-lysosomal enzyme antibody assay (e.g., increasing assay sensitivity and circulating lysosomal enzyme tolerance), comprising pre-treating the biological sample of the subject with a base having a pH of about 11 or greater, and measuring the presence of the anti-lysosomal enzyme antibody in the biological sample of the subject.

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.

The present invention provides a novel compound represented by Chemical Formula 1, an optical isomer thereof, or a pharmaceutically acceptable salt thereof. With an excellent inhibitory activity against PIKfyve, the novel compound of the present invention is useful as a therapeutic agent for PIKfyve activity-related cancer disease, inflammatory disease, or lysosomal storage disease.

Provided herein are compositions and methods for treating or preventing a neurodegenerative disease, a myodegenerative disease, a prion disease, or a lysosomal storage disease in a subject.

The present invention provides novel fluorinated cyclic derivatives of sulfonamides and sulfones useful in the treatment of various diseases and disorders associated with TRPML activity, such as neurodegenerative diseases, lysosomal storage diseases, muscular dystrophy, age-related common neurodegenerative diseases, oxidative stress or reactive oxygen substance (ROS)-related diseases, aging, etc. The invention also relates to a composition, a preparation method and application thereof.

The present invention relates to Compounds of Formula I: and pharmaceutically acceptable salts or prodrug thereof. The present invention also relates to compositions comprising at least one compound of Formula I, and methods of using the compounds of Formula I for treatment or prophylaxis of lysosomal storage diseases, neurodegenerative disease, cystic disease, cancer, or a diseases or disorders associated with elevated levels of glucosylceramide (GlcCer), glucosylsphingosine (GlcSph) and / or other glucosylceramide-based glycosphingolipids (GSLs).