133 results about "Muscular dystrophy" patented technology

Aspects of the disclosure relate to complexes comprising a muscle-targeting agent covalently linked to a molecular payload. In some embodiments, the muscle-targeting agent specifically binds to an internalizing cell surface receptor on muscle cells. In some embodiments, the molecular payload inhibits expression or activity of a DMPK allele comprising a disease-associated-repeat. In some embodiments, the molecular payload is an oligonucleotide, such as an antisense oligonucleotide or RNAi oligonucleotide.

The present invention provides compositions and methods of their use in treating dystroglycanopathy, muscular dystrophy and other disorders. In particular, a method of treating a disorder associated with a mutation or loss of function in a fukutin related protein (FKRP) gene and / or a disorder associated with a defect in glycosylation of α-DG in a subject is provided, comprising administering to the subject an effective amount of a ribitol and a selective estrogen receptor modulator (SERM).

A phosphorothioate-containing RNA molecule that includes the nucleotide sequence: 5'-NCCCUGGUGGUCUAGUGGUUAGGAUUCGGCGC-3' (SEQ ID NO: 1), where N is uracil or thymine, is provided. The RNA molecule can include one or more phosphorothioate bonds between nucleic acid residues in one or more pairs (e.g., between nucleic acid residues in each pair) of consecutive nucleic acid residues within SEQ ID NO: 1. The RNA molecule and compositions thereof find use in treating muscle disorders, such as muscular dystrophy, heart conditions, such as heart failure or myocardial infarction, and / or conditions associated with inflammation and / or fibrosis.

The invention relates to the technical field of biomedicine, in particular to a method for regulating and controlling the liquid-liquid phase separation capacity and function of DUX4 and application of the method, and the liquid-liquid phase separation capacity and function of the DUX4 are regulated and controlled by mutating an internal disordered region of the DUX4. The invention finds that the mutation has a remarkable inhibition effect on expression of DUX4 activated totipotent genes and FSHD related genes; according to the method, an intracellular liquid-liquid phase separation model is constructed through intracellular overexpression of DUX4; a research basis and a model are provided for subsequent LLPS research of DUX4, and thinking and mechanism explanation are provided for research of DUX4-mediated facial shoulder brachial muscular dystrophy (FSHD) and development of treatment targets.

The present invention relates to a composition for enhancing or protecting muscles, comprising a fermented salmon roe product. According to the present invention, if salmon roe is fermented, the amino acid composition of proteins changes, and the effects of promoting muscle synthesis, inhibiting muscle degradation and damage, and protecting muscles are greatly improved. Therefore, the fermented salmon roe product of the present invention can be applied to food to exhibit effects of enhancing and protecting muscles, and can also be used as a pharmaceutical composition for preventing or treating sarcopenia or amyotrophic diseases through the effects.

Recombinant myotropic AAV rh.74 capsids are described herein. In addition, plasmids, viral vectors, dual vector systems, cells, and compositions comprising or encoding such recombinant capsids are further described. Such recombinant polynucleotides, plasmids, viral vectors, dual vector systems, cells, and compositions may be used to treat muscle diseases or disorders, including muscular dystrophies and cardiomyopathies.

The present invention relates to compounds for use in treating a disease or disorder associated with muscle fibrosis in a subject. In particular, the present invention relates to inhibitors of the RhoA / ROCK pathway for use in treating a disease or disorder associated with muscle fibrosis, like muscular dystrophy in a subject.

Disclosed herein are improved methods for treating muscular dystrophy, such as DMD, BMD, or FSHD. Various combination therapies and monotherapies are provided.

The present invention relates to an albumin nanocomposite comprising a phytochemical, and a composition for improving muscle diseases comprising the same, and more specifically, to an albumin nanocomposite comprising a phytochemical, the present invention relates to an albumin nanocomposite containing phytochemicals, and more specifically, to an albumin nanocomposite containing phytochemicals, which exhibits the effects of inhibiting muscle reduction caused by oxidative stress or inflammatory response and promoting the differentiation of myoblasts into muscle cells. The albumin nanocomposite containing the phytochemicals can target and induce immune cells of active oxygen and inflammatory reaction and effectively deliver the phytochemicals, so that muscle cell atrophy is inhibited and differentiation is promoted by adjusting a muscle reduction signal mechanism induced by the active oxygen and the inflammatory reaction, and further muscle reduction can be improved, so that the curative effect of the albumin nanocomposite is improved. The muscular dystrophy is prevented and treated. Therefore, the composition containing the albumin nanocomposite containing phytochemicals of the present invention can be provided as a composition for improving muscle diseases.

The invention discloses application of hydrogen-rich water in preparation of a drug for treating Duchenne type muscular dystrophy, and particularly relates to the technical field of medicines.The random control experiment is adopted, homologous c57 mice serve as a normal control group, mdx mice are randomly divided into a model group and a hydrogen-rich water group, and the exercise ability is evaluated through a four-limb holding power test and a rotating bar test; detecting mouse creatine kinase by an enzyme-linked immunosorbent assay; carrying out hematoxylin-eosin, NADH-tetrazole reductase and improved Goori three-color dyeing, and carrying out cytochrome C oxidase, succinate dehydrogenase and SDH-COX combined dyeing to observe the pathological change of the skeletal muscle tissue; the invention discloses that the muscle injury condition of a Duchenne type muscular dystrophy model mouse is improved by the hydrogen-rich water through a mitochondrial protection mechanism, and the hydrogen-rich water has a relatively high application prospect and a relatively high economic value.

The present invention provides an oral dosage form for, and a therapeutically effective dose for the management and / or treatment of muscular dystrophy using Sitagliptin or its pharmaceutically acceptable salt, alone or in combination with other therapeutically effective agents.

The present application provides an engineered circular RNA capable of recruiting adenosine deaminase acting on RNA (ADAR; arRNA) and its application in treating Duchenne muscular dystrophy (DMD).

The disclosure relates to compositions and methods for enhancing asymmetric division of satellite cells and promoting muscle cell / tissue regeneration, for treatment of muscle tissue injuries and muscle diseases, including muscular dystrophies.

The group of inventions relates to the field of medicine, pharmacology and the chemical and pharmaceutical industry and includes an improved method for producing (10S, 13S, 16R, 17R)-17-hydroxy-10,13,16-trimethyl-17-propanoyl-7,8,12,14,15,16-hexahydro-6H-cyclopenta[a]phenanthrene-3-one (compound of formula (I)) and the use thereof for industrial batch, semi-continuous and continuous chemical production. Also described is a method for producing an intermediate compound, Vamorolone Acetate. The method for producing the compound of formula (I) is carried out according to the schema depicted. The production method makes it possible to produce the compound of formula (I) with a purity suitable for the use thereof in a finished dosage form for subjects requiring treatment for Duchenne muscular dystrophy. Thus, the technical results of the present invention consist in an improved production method which results in: a high yield and chemical purity, including stereoisomeric purity, of the compound of formula (I) and intermediate products in the synthesis of the compound of formula (I), which are suitable for use in a finished dosage form for subjects requiring treatment for Duchenne muscular dystrophy; the adaptability of the synthesis of the compound of formula (I) to industrial production; environmentally-friendly production; and a decrease in the formation of undesirable by-products.

Disclosed are conjugates of an oligonucleotide and a peptide covalently bonded or linked to the oligonucleotide via a linker that target a human dystrophin gene, compositions including the same, and methods of use thereof.

Provided are methods of treating or ameliorating the symptoms of dystrophinopathies, such as Duchenne muscular dystrophy and Becker muscular dystrophy by administration of therapeutically effective doses of recombinant adeno-associated viruses (rAAV) containing a transgene encoding a microdystrophin comprising a CT domain.

The invention concerns homogenous antibody-oligonucleotide conjugates (AOCs) having structure (1): Ab–[ (Z)y1 – LD – (D)x ]z (1), wherein Ab is an antibody, Z is a connecting group obtainable by reaction between two click probes, x is 1, 2, 3 or 4, y1 is 1 or 2, z is 2 or 4, LD is an heterobifunctional (x + y1)- valent linker; and D is an oligonucleotide. The AOCs are homogenous, readily prepared, and effective in targeted delivery of the oligonucleotide to a cell of interest with high efficacy. The AOCs according to the invention have an improved therapeutic window and improved efficacy over conventional AOCs. Hence, the AOCs are effective in the treatment of disorders like muscular dystrophy. In a first aspect, the invention concerns the use of novel linkers for the efficient preparation of AOCs. In a second aspect, the invention concerns the medical use of AOCs for the treatment of neuromuscular disorders. In a third aspect, the invention concerns specific AOCs that are particularly suitable in treatment. In a fourth aspect, the invention concerns the use of ultrafast click chemistry in the preparation of AOCs.

Described herein in various embodiments are compositions comprising (a) a cyclic peptide; and (b) an antisense compound, wherein the antisense compound targets exon 44 of the DMD gene in a pre-mRNA sequence.

To provide a novel method for treating dystrophinopathy and / or a disease condition associated therewith.SOLUTION: A composition for use in treating dystrophinopathy and / or a disease condition associated therewith, the composition comprising cardiosphere-derived cells (CDCs) and / or CDC-derived exosomes.SELECTED DRAWING: Figure 4A

The present invention relates to a conjugate formed from a cell penetrating peptide vector linked to a therapeutic molecule wherein the peptide vector is defined by a specific domain and the therapeutic molecule is a nucleic acid formed from a trinucleotide repeat. The invention further relates to the use of such conjugates in methods of treatment or as a medicament, in particular in the treatment of trinucleotide repeat disorders such as ankylosing muscular dystrophy (DM1).

Recombinant myotropic AAV rh.74 capsids are described herein. In addition, plasmids, viral vectors, dual vector systems, cells, and compositions comprising or encoding such recombinant capsids are further described. Such recombinant polynucleotides, plasmids, viral vectors, dual vector systems, cells, and compositions may be used to treat muscle diseases or disorders, including muscular dystrophies and cardiomyopathies.

The present invention provides a therapeutic drug for frailty or muscular dystrophy, and particularly for sarcopenia, and a medicinal drug for improving motor function. The present invention provides a motor function improver that contains a compound represented by general formula (I) or a pharmaceutically acceptable salt thereof and additionally contains an ATP precursor substance or is used in combination with an ATP precursor substance. The ATP precursor substance is preferably inosine, inosinic acid, or hypoxanthine. This motor function improver is preferably used as a medicinal drug and is used as a therapy or preventive for frailty and sarcopenia and as a therapy or preventive for muscle wasting and muscle loss.

The invention described herein provides gene therapy vectors, e.g., adeno-associated virus (AAV) vectors that co-express a functional protein (e.g., a micro-human micro-dystrophin gene product) and one or more additional coding sequences for RNAi sequences (e.g., siRNA, shRNA, miRNA), antisense sequences, guide sequences for gene-editing enzymes (e.g., sgRNA for CRISPR / Cas9 or crRNA for CRISPR / Cas12a), and / or microRNA, and methods of using such vectors to treat subjects with muscular dystrophy, e.g., DMD / BMD.

The present disclosure provides compositions related to binding of various sarcoglycan proteins, which are relevant for their role in numerous genetic disorders, including limb girdle muscular dystrophy. The disclosure includes proteins, antibodies and / or fragments thereof and associated polynucleotide constructs. The disclosure further provides methods for manufacturing said compositions and other uses for the same.

Disclosed are methods of treating muscular atrophy diseases, such as spinal muscular dystrophy or muscular dystrophy, using matrix-bound vesicles (MBV). Compositions for the treatment of muscular atrophic diseases are also disclosed.

The present disclosure is concerned with piperidinedione compounds, pharmaceutical compositions comprising the compounds, and methods of treating disorders associated with the presence of a premature termination codon such as, for example, cystic fibrosis, Duchenne muscular dystrophy, aniridia, Becker muscular dystrophy, spinal muscular atrophy, Hurler syndrome, hemophilia, epidermolysis bullosa (e.g., dystrophic (DEB) form, junctional (JEB) form). Usher syndrome, and cancer, using the compounds. This abstract is intended as a scanning tool for purposes of searching in the particular art and is not intended to be limiting of the present invention.

The present disclosure relates generally to alkyne containing pharmaceutical agents, and in particular, to phenylethynyl-thiophene based compounds. More particularly, the present disclosure provides a class of compounds that can inhibit and / or attenuate apoptosis via caspase 3 for the treatment of various degenerative disorders. Additionally, the present disclosure relates to methods for treating specific degenerative disorders such as amyotrophic lateral sclerosis (ALS), Huntington's disease, epilepsy, spinal cord injury, complication due to diabetes, multiple sclerosis (MS), muscular dystrophy (MD), Parkinson's disease (PD), irritable bowel syndrome (IBS) and Alzheimer's disease (AD) in a patient comprising administering to the patient an effective amount of a present compound.

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.

Disclosed herein are oligonucleotide conjugates and pharmaceutical compositions for inducing multi-exon skipping. In some instances, also disclosed herein are methods of treating a muscular dystrophy, including treating Duchenne muscular dystrophy or Becker muscular dystrophy.

The present invention aims to provide a novel therapeutic approach to human muscular dystrophy (particularly MDC1A). The present invention provide a polynucleotide comprising the following base sequences: (a) a base sequence encoding a fusion protein of a nuclease-deficient CRISPR effector protein and a transcription activator, and (b) a base sequence encoding (i) a guide RNA targeting a continuous region set forth in SEQ ID NO: 15, 20, 25, 50, 56, or 61, (ii) a guide RNA targeting a continuous region set forth in SEQ ID NO: 124, or (iii) a guide RNA targeting a continuous region set forth in SEQ ID NO: 178, 193, or 195, in the expression regulatory region of human LAMA1 gene.