87 results about "Myopathy" patented technology

The present invention relates to a method of treating a glucose-6-phosphate dehydrogenase dysregulated disorder in a subject in need thereof, the method comprising administering to the subject an effective amount of oleanolic acid, a conjugated salt thereof, or a prodrug thereof. The glucose 6-phosphate dehydrogenase dysregulated disorder can be myofibrillar myopathy, amyotrophic lateral sclerosis, Huntington's disease, Parkinson's disease and Alzheimer's disease caused by BCL2 associated immortal gene mutation.

Provided are methods of feeding a bird or feeding a population of birds by administering arginine silicate inositol. Also provided are methods of treating or preventing a myopathy in poultry. Also provided are methods for increasing poultry weight and improving poultry breast fillet quality. The methods include administering arginine silicate inositol or a composition comprising arginine silicate inositol to a bird or a population of birds. Also provided are compositions comprising arginine silicate inositol and at least one carrier.

The present disclosure provides pharmaceutical and nutritional compositions and methods for treating mitochondrial disorders. The present invention relates to a pharmaceutical or nutritional composition comprising a stabilized sulforaphene (e.g., a sulforaphene-cyclodextrin complex) that improves the efficacy, biological activity, and stability of the isolated sulforaphene. The disclosure also includes the use of the stabilized sulforaphene as an effective therapeutic agent for the treatment of mitochondrial disorders, such as mitochondrial myopathy.

The present disclosure provides methods of treating inflammatory indications with complement inhibitor compounds and compositions. Included are compounds and methods of treating neuromuscular inflammatory indications, such as Immune-Mediated Necrotizing Myopathy.

The present invention relates to chemical compounds useful as inhibitors of class II phosphoinositide 3-kinase (PI3K) signaling. The invention further relates to the medical use of inhibitors of class II phosphoinositide 3-kinase (PI3K) signaling in the treatment of medical conditions associated with defective and / or pathological class II phosphoinositide 3-kinase (PI3K) signaling, such as stroke, cardiovascular diseases associated with endothelial cell dysfunction, cancer, cancerometastasis, myopathy and diabetes.

The invention relates to a food supplement comprising at least one source of magnesium, one of its salts, one of its hydrates or one of its chelates, for the use thereof in the prevention and treatment of myopathies in poultry, or for the use thereof in the feeding of fast-growing poultry.

This invention provides compounds for the treatment, prevention, or suppression of various pathological conditions (such as proliferative disorders like cancer, β-globin disorders, fibrosis, pain, neurodegenerative diseases, Prader-Willi syndrome, malaria, viral infections, myopathy, and autism) by inhibiting G9a. [Solution] The following general formula (I) TIFF2026062914000401.tif2449 A compound represented by or a pharmacoposly acceptable salt thereof is provided.

We provide gene therapy for the treatment of muscular dystrophy, including but not limited to Duchenne muscular dystrophy (DMD). [Solution] This disclosure provides a recombinant adeno-associated virus (rAAV) comprising a nucleic acid molecule that delivers a nucleic acid encoding a U7-based snRNA, which is a nucleic acid that induces exon skipping for use in the treatment of muscular dystrophy, including but not limited to DMD, resulting from any mutation suitable for skipping exon 44 of the DMD gene (DMD exon 44), including but not limited to mutations involved in or affecting DMD exon 44.

The present invention relates to methods and materials for treating GNE-related disorders such as GNE myopathy, GNE-dependent ALS, thrombocytopenia, sarcopenia and aging using a dual gene recombinant adeno-associated virus comprising the GNE gene and the follistatin gene. This therapy is unique in that it can rebuild lost muscle strength at the same time that it prevents subsequent muscle disease from occurring.

The present disclosure is directed to methods of treatment, including treatment of a myopathy by administering to a subject in need thereof an elastase inhibitor in combination with a glucocorticoid. The present disclosure is also directed to pharmaceutical compositions that include an elastase inhibitor that can be used in such treatment.

The present invention relates to a sulfinyl imide derivative or a pharmaceutically acceptable salt thereof, and a composition for preventing or treating cancer comprising the derivative as an active ingredient. The sulfoximide derivative or the pharmaceutically acceptable salt thereof according to the present invention has an excellent effect on activation of Nrf2, has high solubility and drug metabolism stability, has anti-inflammatory and antioxidant effects, and improves athletic performance and cognitive ability, and thus can be used in the prevention or treatment of diseases caused by a decrease in Nrf2 activity, such as diseases caused by a decrease in Nrf2 activity, as well as in the prevention or treatment of diseases caused by a decrease in Nrf2 activity. The compound is preferably used for treating liver diseases, kidney diseases, lung diseases, neurodegenerative diseases, mitochondrial myopathy, Friedel's ataxia, corneal endothelial cell loss, psoriasis and the like.

The invention provides an RNA composition for diagnosing idiopathic inflammatory myopathy or evaluating treatment of idiopathic inflammatory myopathy, a kit and application thereof. The RNA composition comprises the following components: hsa-miR-590, hsa-miR-181a, DEFA1 (diethylaminofluoroacetic acid) and RP3-4489.2 (recombinase protein 3-4489.2). In patients with the idiopathic inflammatory myopathy, hsa-miR-590, hsa-miR-181a and RP3-4489.2 can be obviously reduced, and DEFA1 can be obviously increased, so that the RNA composition can be used as a biomarker for diagnosing the idiopathic inflammatory myopathy or evaluating the treatment effect of the idiopathic inflammatory myopathy, has the advantages of high sensitivity, high specificity and high accuracy, and can be used for preparing the biomarker for treating the idiopathic inflammatory myopathy. And a reliable scientific basis and a personalized treatment idea can be provided for treatment and clinical diagnosis of idiopathic inflammatory myopathy.

The application provides a kind of medicine composition for treating muscle and bone disease and its application, belong to medical technology field.The medicine composition includes the following weight parts components: compound angelica injection 5-10 parts, kadsura injection 5-10 parts, wild medlar injection 5-10 parts, methylcobalamin injection 5-10 parts;It can also be selectively added vitamin B1 injection, vitamin B12 injection, yellow Chinese wax injection or bone peptide injection.The composition of the application is administered by acupoint injection or intramuscular injection, utilizes the synergistic effect of multiple traditional Chinese medicine injection and western medicine injection, reaches the comprehensive treatment effect of promoting blood circulation to remove blood stasis, dispelling wind to stop pain, nerve nutrition.Clinical experiments show that the application has significant effect on lumbar disc herniation, cervical spondylosis, shoulder periarthritis, knee osteoarthritis, femoral head necrosis, osteoporosis and the like, and the total effective rate is more than 95%, with fast effect, low recurrence rate, and no hormone-related side effects, suitable for patients of all ages.

The present disclosure provides a method of treating muscle myopathy, including muscle dystrophies and cardiomyopathies, by administering stable, long-lasting vasoactive intestinal peptide therapeutic agents. These agents include one or more elastin-like peptides and can be administered at a low-dose.

To provide a pharmaceutical formulation comprising trehalose for use in treating myopathies, neurodegenerative diseases, or tauopathies associated with abnormal protein aggregation.SOLUTION: A pharmaceutical formulation comprising a therapeutically effective amount of trehalose is provided, wherein the pharmaceutical formulation is for use in a method for treating a disease associated with abnormal protein aggregation and / or inclusion bodies formation in myocytes, neurons, or extracellular compartments, or for alleviating at least one symptom associated therewith in a human subject in need thereof, the method comprising intravenously administering to the subject a pharmaceutical formulation comprising 0.1% (w / v) to 50% (w / v) of trehalose. An injectable aqueous pharmaceutical formulation comprising a therapeutically effective amount of trehalose is also provided.SELECTED DRAWING: None

The invention belongs to the technical field of biology, and discloses an application of sodium crotonate in the aspect of regulating and controlling muscle development, and an application of sodium crotonate in serving as and / or preparing a medicine for regulating and controlling muscle development. The invention discloses the dual effects of sodium crotonate in skeletal muscle development regulation for the first time, and provides a new potential target and a chemical intervention approach for muscle regeneration and treatment of atrophic myopathy and metabolic muscle diseases. On the other hand, the sodium crotonate is a low-toxicity metabolite, can be used in conventional solution preparation and injection modes, and has application prospects.

The application discloses a method for constructing a myopathy animal model, the constructed model and application of the model. The application also provides application of a reagent for knocking out or mutating a PRR14 gene or inhibiting expression of the gene in preparation of a myopathy animal model product. Specifically, compared with normal mice, total muscle mass, grip level and muscle endurance of the mice with muscle tissue-specific knockout of the PRR14 gene are all significantly reduced, the animal model provided by the application has typical characteristics of myopathy, can well simulate occurrence and development of myopathy in vivo, is an ideal animal model for basic and clinical application research of myopathy, and can be well applied to screening of drugs for treating myopathy.

The present invention relates to methods and materials for treating GNE-related disorders such as GNE myopathy, GNE-dependent ALS, thrombocytopenia, sarcopenia and aging using a dual gene recombinant adeno-associated virus comprising the GNE gene and the follistatin gene. This therapy is unique in that it can rebuild lost muscle strength at the same time that it prevents subsequent muscle disease from occurring.

The invention provides an RNA (Ribonucleic Acid) composition for diagnosing or evaluating idiopathic inflammatory myopathy, a kit and application. Wherein the RNA composition is prepared from hsa-miR-590, hsa-miR-28, hsa-miR-409, hsa-miR-146b and DEFA1 (Diaphragmitis Factor A1). In patients with the idiopathic inflammatory myopathy, hsa-miR-590, hsa-miR-28, hsa-miR-409 and hsa-miR-146b can be obviously reduced, and DEFA1 can be obviously increased, so that the RNA composition can be used as a biomarker for diagnosing the idiopathic inflammatory myopathy or evaluating the treatment effect of the idiopathic inflammatory myopathy, has the advantages of high sensitivity, high specificity and high accuracy, and can be used for preparing a biomarker for treating the idiopathic inflammatory myopathy. And a reliable scientific basis and a personalized treatment idea can be provided for treatment and clinical diagnosis of idiopathic inflammatory myopathy.

Disclosed is a method of treatment of a disease associated with abnormal protein aggregation comprising parenterally administering pharmaceutical formulations comprising trehalose. Also disclosed is an injectable aqueous pharmaceutical formulation comprising a therapeutically effective amount of trehalose.

According to the invention, the correlation between Ndufa10 gene and / or S1pr4 gene mutation and muscular dystrophy morbidity is discovered. The invention provides an application of mutations of a Ndufa10 gene and an S1pr4 gene in diagnosis and prediction of myopathy. The invention further provides a muscular dystrophy animal model induced by single mutation and double mutation of the NDufa10 gene and the S1pr4 gene and a modeling method. The invention has application prospects in muscular dystrophy disease diagnosis and therapeutic drug screening.

The present application relates to next-generation biopharmaceutical gene therapy technology, specifically an AAV-based gene therapeutic agent for treating GNE myopathy. The present application provides an isolated nucleic acid having 75% to 99% sequence identity with the nucleotide sequence of SEQ ID NO: 2 and a GC-content ranging from 50% to 60% based on the entire nucleotide sequence, an expression cassette comprising the isolated nucleic acid, a recombinant virus based on adeno-associated virus serotype 9 comprising the expression cassette, and a pharmaceutical composition for preventing or treating GNE myopathy comprising the recombinant virus as an active ingredient.

The application provides a method for constructing a mouse model of mitochondrial myopathy with a Lars2 gene deletion and application thereof, a first Lars2 flox / flox mouse is obtained by crossing an Acta1 ER‑Cre mouse with an Acta1 ER‑Cre -Lars2 flox / flox mouse; in the second step, the above mouse reaches 4 weeks of age, and tamoxifen 70-80 mg / kg is used for continuous intraperitoneal injection for 5 days; in the third step, 4 weeks later, tamoxifen 45-55 mg / kg is used for continuous intraperitoneal injection for 5 days; in the fourth step, the Acta1 ER‑Cre -Lars2 flox / flox mouse reaches 12-13 weeks of age, and skeletal muscle Lars2 protein deletion occurs, and skeletal muscle atrophy occurs obviously at 16 weeks of age, thereby obtaining a mouse model of mitochondrial myopathy with a Lars2 gene deletion.

The invention provides a myopathy progress prediction method and device based on a spatio-temporal topology network, and the method comprises the steps: carrying out the image segmentation and quantification of muscle biopsy sections of a patient at a plurality of time points, constructing a static pathological topology network with a single muscle fiber as a node and a spatial adjacency relation as an edge, and enabling the node to comprise the multi-dimensional features of subtypes, forms, textures, cell nucleuses and the like; and forming time-space diagram data according to a time sequence. The data are input into a pre-trained space-time diagram neural network, a space coding layer aggregates neighborhood information through a diagram convolutional network to capture space interaction, a time coding layer learns a time sequence evolution rule through a recurrent neural network, and a decoding layer predicts a network state of a next time point. Pathological network sequences of multiple time points in the future are generated through iterative prediction, then key indexes are extracted to draw a quantitative prediction curve, a visual pathology heat map is generated, crossing from static pathology to dynamic progress is achieved, and an objective and accurate myopathy prognosis evaluation tool is provided for clinic.

The present invention relates to a composition comprising sialyloligosaccharide and N-acetylmannosamine for the treatment of GNE myopathy, and a method of using same. Despite ManNac exhibiting non-significant sialylation activity in GNE knockdown (GNE KD) C2C12 skeletal muscle cells, it was confirmed that co-administration of ManNac and sialyloligosaccharide promotes sialylation more effectively than single administration, thereby exhibiting an excellent synergistic effect. Such effects have also been confirmed in an animal model of GNE myopathy, and thus the combined therapy of ManNAc and sialyloligosaccharide of the present invention is expected to be advantageously employed as a novel therapeutic approach capable of overcoming hyposialylation caused by sialic acid deficiency in GNE myopathy.

The present invention relates to a microcapsule made of bioassimilable polymer, loaded with at least one active substance, and comprising at least one micrometric opening. The invention also relates to a method for obtaining said capsule, as well as this capsule for its use in the treatment of a pathology, in particular cancer or myopathy. (no figure)

The application belongs to the technical field of biological medicine, and particularly relates to application of a reagent for detecting anti-DLAT autoantibody in preparation of a product for detecting and / or diagnosing immune-mediated necrotizing myopathy. Experiments prove that DLAT can be used as a recognition antigen of an immune-mediated necrotizing myopathy related autoantibody, DLAT is a target point of the immune-mediated necrotizing myopathy autoantibody, the reactivity of the anti-DLAT autoantibody with the related antigen in dermatomyositis is 0%, the reactivity of the anti-DLAT autoantibody with other antigens HMGCR and SRP of the immune-mediated necrotizing myopathy is 0%, the anti-DLAT autoantibody is a new biological marker of the immune-mediated necrotizing myopathy, and the immune-mediated necrotizing myopathy can be detected and / or diagnosed.

A method of treating idiopathic inflammatory myopathy in an individual is described. The method involves administering an effective amount of umbilical lining-derived stem cells to the individual. The method may involve reducing or tapering steroid usage in individual afflicted with idiopathic inflammatory myopathy. The method may involve administering a single dose of the umbilical lining-derived stem cells, or administering multiple doses of the umbilical lining-derived stem cells over a defined period of time.

The present invention relates to the treatment of myopathy. We report the identification of effective AS-siRNAs against two nucleotide versions of two non-pathogenic DNM2 SNPs that can be used to silence any mutations carried by the same mRNA. In addition, the first AS-siRNA was developed targeting a DNM2 mutation associated with a severe neonatal phenotype, namely the p.S619L mutation. They then developed other AS-siRNAs targeting the p.S619L and p.R465W mutations. They also report the functional benefits of this new set of siRNAs for several defects identified in patient-derived cell lines. The development of these new AS-siRNAs, in addition to the previous one targeting the p.R465W mutation, provides a large number of allele-specific molecules that can target the majority of AD-CNM patients. Interestingly, siRNAs against DNM2 SNPs are versatile molecules with greater potential applications in silencing DNM2 mutations in CMT and HSP, as well as in reducing DNM2 expression in a controlled manner in diseases associated with deleterious overexpression. Thus, the present invention relates to allele-specific siRNAs (AS-siRNAs) that can silence the expression of only one allele of a heterozygous DNM2 gene, where the target allele comprises a non-pathological polymorphism selected from the group consisting of rs2229920 (C or T) or rs12461992 (A or T), and / or a disease-causing mutation selected from the group consisting of c.1393C>T or c.1856C>T.

The present disclosure relates to a bio-assimilable polymer microcapsule loaded with at least one active substance and comprising at least one micrometric opening. The disclosure also relates to a method for obtaining said capsule, and to this capsule for its use in the treatment of a pathology, in particular cancer or myopathy.