45 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 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 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.

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

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).

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.

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 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 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 the field of biotechnology, and more particularly to pharmaceutical compositions and methods for preventing and treating lysosomal enzyme deficiency in a subject, which can be used in medicine. The present invention relates to an HIR-Fab-IDS compound which can be used to prevent or treat a lysosomal enzyme deficiency in a subject suffering from a lysosomal storage disease in the form of mucopolysaccharide storage disease type II (MPS II) wherein at least one dose of said HIR-Fab-IDS compound is administered to the subject in an amount of 1 to 12 mg / kg; and in addition to a pharmaceutical composition for the prevention or treatment of a lysosomal enzyme deficiency in a subject suffering from the lysosomal storage disease MPS II wherein the composition comprises said HIR-Fab-IDS compound; and to a method for preventing or treating a lysosomal enzyme deficiency in a subject suffering from the lysosomal storage disease MPS II comprising administering to the patient at least one dose of said HIR-Fab-IDS compound.

The present invention relates to Compounds of Formula I: 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).

Disclosed are compositions and methods for the treatment of lysosomal storage diseases. Also disclosed are biotherapeutic complexes comprising an internalization effector binding domain and lysosomal replacement enzyme activity. The biotherapeutic complexes are capable of entering cells, sequestering in the lysosome, and delivering the replacement enzyme activity to the lysosome.

A number of medical disorders are caused by either an insufficiency of a gene product or a defective gene product. Gene therapy can be used to provide a sufficient amount of a gene product when a disorder is caused by an insufficiency and can also be used to inactivate genes that produce defective gene products. Examples of disorders that can be treated by providing a sufficient amount of a gene product include lysosomal storage diseases, clotting disorders, diabetes, and alpha-1 antitrypsin deficiency. Systems and methods to produce B cells that express selected antibodies and gene products are described. The systems and methods can be used to provide prolonged and tunable expression of the gene products for the treatment of diseases such as lysosomal storage diseases, clotting disorders, diabetes, or other protein deficiencies.

The application is directed to compounds of formulae (IA) and (IB) and their salts and solvates, wherein R1a, R2a, R3a, A1, A2, A3, R1b, R2b, R3b, B1, and B2 are as set forth in the specification, as well as to methods for their preparation, pharmaceutical compositions comprising the same, and use thereof for the treatment and / or prevention of, e.g., lysosomal storage diseases, such as Gaucher's disease, and α-synucleinopathies, such as Parkinson's disease.

The invention discloses a recombinant adeno-associated virus, a construction method thereof and application of a composition of the recombinant adeno-associated virus in treating acute myelogenous leukemia. The composition comprises the recombinant adeno-associated virus and a vein iron supplement agent, and the recombinant adeno-associated virus takes an adeno-associated virus as a vector and comprises an AML specific promoter NM and miR30-shGBA (miGBA). Under the combined action of the recombinant adeno-associated virus and the vein iron supplementing agent, acute myelogenous leukemia cell OH is induced to be remarkably increased, miGBA is continuously expressed, and lysosomal storage disorder and ferroptosis of cells are caused. The composition based on the recombinant adeno-associated virus and the vein iron supplement can be used for preparing a novel acute myelogenous leukemia treatment reagent.

This application is directed to the use of a ketogenic agent, such as 1,3-butanediol, R-β-hydroxybutyl-R-β-hydroxybutyrate, or triheptanoin, in the treatment of an individual having a lysosomal storage disease, including Pompe disease. Compositions comprising ketogenic agents and metabolic enhancing agents for treating a lysosomal storage disease are also provided.

The invention provides a method for screening lysosomal storage disease related genes based on a caenorhabditis elegans lysosomal overload model and application of the method. The method comprises the following steps: constructing a transgenic nematode strain containing an intestinal specific promoter nhx-2p-driven CPL-1 and red fluorescent protein wrmScarlet fusion expression vector; intestinal cells are induced to secrete CPL-1:: wrmScarlet fusion protein into coelomic fluid, and the fusion protein is endocytosed and accumulated in lysosome by coelomic cells to form a quantifiable overload phenotype, and then gene expression is knocked down by adopting a feeding RNA interference technology; the red fluorescence signal intensity change of body cavity cells is observed under a stereoscopic fluorescence microscope so as to screen candidate genes for promoting or relieving lysosome storage, and meanwhile, the model can be used for drug screening, and has the advantages of direct observation through a low-power lens at a living animal level, high flux, quantifiability, convenience in operation and the like; and the long-standing key technical bottleneck in the field of lysosomal storage diseases is solved.

The present invention relates to pharmaceutical compositions and uses against lysosomal storage disorders. The present disclosure provides treatment of lysosomal storage disease (LSD) comprising administering acetyl-leucine or a pharmaceutically acceptable salt thereof.

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.

This invention relates to pharmaceutical compositions, including compositions adapted for intranasal administration, comprising an active ingredient, including phosphodiesterase inhibitors, useful in the treatment of respiratory dysfunction associated with motor neuron diseases and lysosomal storage diseases, including amyotrophic lateral sclerosis and other adult and pediatric neurodegenerative diseases characterized by central apnea and protein misfolding involving brainstem nuclei.

The present invention provides methods for detecting multiple biomarkers indicative for lysosomal storage diseases from a dried blood spot. In particular, the present invention provides a method that is suited for detecting multiple biomarkers, each indicative for the presence of a distinct lysosomal storage disease in a subject, based on a single sample preparation procedure. In particular, the method allows simultaneous extraction of different biomarkers such as Lyso-Gb1 (GlcSph). Lyso-Gb3, and others from a dried blood spot sample. The invention further provides a kit of parts comprising means for conducting the methods subject of the invention. Finally, the invention provides a set of reference ranges for Lyso-Gb1 (GlcSph) and Lyso-Gb3 in healthy subjects starting from dried blot spot samples.