48 results about "Myopathy" patented technology

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.

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 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.

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 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 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.

Adult form glycogen storage disease type III (GSD III) is an orphan neuromuscular disorder caused by a deficiency of glycogen debranching enzyme. Long-term complications include progressive liver fibrosis, hepatic failure, and end-stage liver cirrhosis, and progressive muscle myopathy. Presently, there are no clinically approved therapies or cures for GSD III. Disclosed herein are compositions for and methods of treating and / or preventing GSD III disease progression.

The present disclosure provides methods of detecting and treating idiopathic inflammatory myopathies (IIM). It was surprisingly discovered that autoantibodies against dysferlin are common in subjects having IIM patients and that the levels of dysferlin antibodies are linked with the severity and the progression of the disease. In some embodiments, it includes a method of treating idiopathic IIM in a subject, comprising, obtaining a sample from the subject, measuring the level of one or more dysferlin autoantibodies in the subject, and administering a therapeutically effective dose of an agent that inhibits one or more dysferlin autoantibodies, when an increase of IIM was measured in a subject.

The invention relates to the technical field of biological breeding, in particular to application of BMP6 protein or a coding gene thereof to regulation and control of myogenic differentiation of poultry skeletal muscle satellite cells. The invention finds that the BMP6 gene is a key factor for regulating and controlling the senescence of the muscle-derived satellite cells and inducing the cells to be converted from an activated state to a resting state through the research of an snRNA-seq combined in-vivo and in-vitro method, and proves that the knock-down of the BMP6 can promote the activation and myogenic differentiation of the skeletal muscle satellite cells. The invention provides a new way for improving the meat production performance of poultry, breeding an improved variety and preventing and treating related myopathy.

The technology as disclosed herein includes systems, methods, and compositions for detection of disease in a subject using spectroscopy and includes more effective detection of muscular myopathies in commercially farmed animals using infrared spectroscopy, and includes detection of Wooden Breast, White Striping, and / or Spaghetti Meat in broiler chickens utilizing near infrared spectroscopy. Implementations of the systems, methods, and compositions provided herein include and / or utilize and / or provide for detection of Wooden Breast, White Striping, and / or Spaghetti Meat in broiler chickens utilizing near infrared spectroscopy of breast area of live birds for prediction of taurine levels in the muscle.

The invention discloses application of an interleukin 15 receptor subunit alpha (IL-15RA) blood biomarker as a marker for diagnosing idiopathic inflammatory myopathy (IIM), application of the IL-15RA blood biomarker in a reagent, application of the IL-15RA blood biomarker in a kit and application of the IL-15RA blood biomarker as an intervention target in preparation of a medicine for treating the idiopathic inflammatory myopathy (IIM). Serum proteomics screening of idiopathic inflammatory myopathy (IIM) is carried out by adopting an Olink proteomics technology, and a result shows that the serum level of IL-15RA in an IIM group is obviously higher than that of a healthy control group (average value, 2.04 vs.1.54 ng / mL, Plt; 0.01), the result difference has significance, and the result shows that the IL-15RA can be used as a novel blood marker of the IIM.

The present disclosure provides, inter alia, compositions and methods for treating premature aging of muscle stem cells to combat myopathy by targeting Cdkn2a.

The technology as disclosed herein includes systems, methods, and compositions for detection of disease in a subject using spectroscopy and includes more effective detection of muscular myopathies in commercially farmed animals using infrared spectroscopy, and includes detection of Wooden Breast, White Striping, and / or Spaghetti Meat in broiler chickens utilizing near infrared spectroscopy. Implementations of the systems, methods, and compositions provided herein include and / or utilize and / or provide for detection of Wooden Breast, White Striping, and / or Spaghetti Meat in broiler chickens utilizing near infrared spectroscopy of breast area of live birds for prediction of taurine levels in the muscle.

The invention relates to the field of pathologies affecting the central nervous system, particularly severe cerebral pathologies, especially those restricted by the presence of the blood-brain barrier (BBB): gliomas, brain metastases, neurodegenerative diseases (e.g., Alzheimer's, Parkinson's, or ALS), genetic diseases (Huntington's, myopathies, Leigh syndrome, Rett syndrome), but also to the field of cancers, musculoskeletal and immunological disorders, vascular diseases (thrombosis) in numerous organs (e.g., liver, kidney, or muscle) and in combination with numerous therapeutic approaches (e.g., chemotherapy, immunotherapy, targeted therapy, or gene therapy). The invention relates to a microbubble comprising a fluorinated polymer or copolymer and a fluorinated gas, its use, and intermediate polymer or copolymer compounds. Abbreviated figure: 0

The present invention relates to methods and compositions for treating muscle diseases and disorders. The invention provides methods for treating muscle myopathies, including muscular dystrophy and cardiomyopathy, by administering stable, long-acting therapeutic agents for vasoactive intestinal peptides. These agents include one or more elastin-like peptides and can be administered at low doses.

Compositions consist essentially of trigonelline or consist of trigonelline. The compositions can be used in food or beverage applications, pharmaceutical formulations, or as a dietary supplement. The compositions can be administered to a mammal to treat or prevent a mitochondria-related disease or a condition associated with altered mitochondrial function in an individual in need thereof or at risk thereof. The mitochondria-related disease or condition is selected from the group consisting of deleterious effects of aging, stress (e.g., oxidative stress), obesity, overweight, reduced metabolic rate, metabolic syndrome, diabetes mellitus, complications from diabetes, hyperlipidemia, neurodegenerative disease, cognitive disorder, stress-induced or stress-related cognitive dysfunction, mood disorder, anxiety disorder, age-related neuronal death or dysfunction, chronic kidney disease, kidney failure, trauma, infection, cancer, hearing loss, macular degeneration, myopathies and dystrophies, and combinations thereof.