29 results about "Lysosomal enzyme defect" patented technology

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 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.

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.

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 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.

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.

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.

The disclosure provides the methods of detecting an anti-lysosomal enzyme antibody in a human subject (e.g., in the presence of a circulating lysosomal enzyme) and the methods of improving an efficacy of an anti-lysosomal enzyme antibody assay (e.g., improving the assay sensitivity and the circulating lysosomal enzyme tolerance), comprising pre-treating the biological sample of the subject with a base at 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 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.

To provide a pharmaceutical composition effective in alleviating or managing neurological symptoms associated with Gaucher disease type 3.SOLUTION: There is provided a pharmaceutical composition for use in a method of enhancing neuronal connectivity in the brain of a subject, which comprises an effective amount of a compound of formula (I) or a pharmaceutically acceptable salt or prodrug thereof.SELECTED DRAWING: None

The present invention provides dosing regimens for administering pharmacological chaperones to a subject in need thereof. The dosing regimens can be used to treat disorders caused by improper protein misfolding, such as lysosomal storage disorders.

The invention relates to the technical field of medicinal chemistry, in particular to application of demethyleneberberine in preparation of a medicine for treating TFEB activity related diseases. The research proves that the demethyleneberberine can be used as a potent TFEB activator, can remarkably promote TFEB nuclear translocation in various cell models, and has a good treatment effect on the lysosomal storage disease.

The present invention provides a compound having a glucosylceramide synthase inhibitory action, which is expected to be useful as an agent for the prophylaxis or treatment of lysosomal storage diseases (e.g., Gaucher's disease, Fabry's disease, GM1-gangliosidosis, GM2 activator deficiency, Tay-Sachs disease, Sandhoffs disease), neurodegenerative diseases (e.g., Parkinson's disease, Lewy body dementia, multiple-system atrophy) and the like.The present invention relates to a compound represented by the formula (I):wherein each symbol is as described in the description, or a salt thereof.

The present invention relates to a method of treating a lysosomal storage disease in a subject by substrate reduction therapy (SRT), the method including administering to the subject a therapeutically effective amount of at least one antisense oligonucleotide (ASO) capable of affecting expression of an enzyme in a glycosaminoglycan (GAG) biosynthesis pathway.

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

This disclosure features chemical entities (e.g., a compound or a pharmaceutically acceptable salt thereof) that degrade and / or otherwise modulate (e.g., inhibit) NIMA Related Kinase 7 (NEK7). Said chemical entities are useful, e.g., for treating a subject (e.g., a human subject) having one or more disorders or diseases associated with NLRP3 inflammasome activation. Said disorders or diseases include but are not limited to, autoinflammatory and autoimmune disorders (e.g., gout, inflammatory bowel disease, rheumatoid arthritis, multiple sclerosis), neurodegenerative diseases (e.g., Alzheimer's disease, Parkinson's disease), cardiovascular and metabolic disorders (e.g., pericarditis, atherosclerosis, Type 2 diabetes, obesity, metabolic syndrome, lysosomal storage diseases, MASH and Wilson disease), fibrotic disorders (e.g. interstitial lung disease, chronic kidney disease), eye disorders (e.g. macular degeneration) and haematology disorders (e.g. anaemia of inflammation).. In embodiments, and while not wishing to be bound by theory, it is believed that the chemical entities described herein directly target (e.g., directly bind to) NEK7, thereby altering (e.g., attenuating) the inflammatory response modulated by the NLRP3 inflammasome. This disclosure also features compositions containing the same as well as methods of using and making the same.

The invention discloses an application of disulfiram in preparation of a medicine for treating lysosomal storage diseases. The drug disulfiram screened by the invention can inhibit phenotypes of lysosomal storage diseases, including inhibition of increase of lysosomal volume, inhibition of cholesterol storage, substantial recovery of inhibited lysosomal tubulation, substantial recovery of repeated hunger tolerance and reduction of cell death rate, thereby achieving the purposes of alleviating injury and inhibiting disease development. Therefore, the disulfiram has the prospect of being developed into the broad-spectrum medicine for treating the lysosomal storage disease.