110 results about "Dystrophy fuchs" patented technology

The invention relates to glycoside-compound conjugates for use in antisense strategies and / or gene therapy. The conjugates comprise a glycoside linked to a compound, in which the glycoside is a ligand capable of binding to a mannose-6-phosphate receptor of a muscle cell. For example the cells are muscle cells of a Duchenne Muscular Dystrophy (DMD) patient and the conjugate comprises an antisense oligonucleotide which causes ex on skipping and induces or restores the synthesis of dystrophin or variants thereof.

The present invention relates to recombinant adeno-associated virus (rAAV) delivery of an alpha-sarcoglycan gene. The invention provides rAAV products and methods of using the rAAV in the treatment of limb girdle muscular dystrophies such as LGMD2D.

The invention relates to a method for inducing or promoting skipping of exon 45 of DMD pre-mRNA in a Duchenne Muscular Dystrophy patient, preferably in an isolated (muscle) cell, the method comprising providing said cell with a molecule that binds to a continuous stretch of at least 21 nucleotides within said exon. The invention further relates to such molecule used in said method.

An automated therapy table is disclosed. The automated therapy table may have various support portions capable of independent automatic actuation of a person's lower extremities through passive exercise. The automated therapy table allows a patient to perform leg elevation, approximation / decompression of the leg, internal / external rotation of the leg, ankle plantar flexion / dorsiflexion, and foot inversion / eversion movements. During each movement, the patient may be instructed to think in the direction of the movement. It has been found that doing so helps increase the healing effects. The disclosed table and method may be beneficial for patients after certain operations as well as for those suffering from various forms of debilitating illnesses, such as Multiple Sclerosis, Charcot-Marie-Tooth, and Muscular Dystrophy.

Antisense molecules capable of binding to a selected target site in the human dystrophin gene to induce exon 53 skipping are described.

The present invention relates to RNA interference-based methods for inhibiting the expression of the DUX4 gene, a double homeobox gene on human chromosome 4q35. Recombinant adeno-associated viruses of the invention deliver DNAs encoding microRNAs that knock down the expression of DUX4. The methods have application in the treatment of muscular dystrophies such as facioscapulohumeral muscular dystrophy.

The invention relates to glycoside-compound conjugates for use in antisense strategies and / or gene therapy. The conjugates comprise a glycoside linked to a compound, in which the glycoside is a ligand capable of binding to a mannose-6-phosphate receptor of a muscle cell. For example the cells are muscle cells of a Duchenne Muscular Dystrophy (DMD) patient and the conjugate comprises an antisense oligonucleotide which causes exon skipping and induces or restores the synthesis of dystrophin or variants thereof.

Antisense molecules capable of binding to a selected target site in the human dystrophin gene to induce exon 53 skipping are described.

The invention provides a health food used for improving the symptom of malnutrition. The health food comprises red dates, dangshen, bighead atractylodes rhizome, Indian bread, coix seeds, lotus seed pulp, Gorgon fruit, Chinese yam, white hyacinth beans, wolfberry, longan pulp, red beans, peanut kernels with red coats, brown granulated sugar, starch syrup, walnut kernels, sunflower seeds, pine nuts, raisin and black sesame. The health food provided in the invention is green and safe and has comprehensive nutrients since natural food materials and articles functioning both as a medicine and a food material are used as main raw materials for the health food. The health food supplements various nutritional components such as a variety of amino acids, unsaturated fatty acids, vitamins and trace elements through adjusting the functions of the spleen and the stomach, can be used for preventing and controlling the symptom of malnutrition and is a purely natural tonifying health food suitable for long-term use.

The present invention relates to a gene therapy method for the treatment of Duchenne muscular dystrophy, or DMD.

The invention relates to an oligonucleotide and to a pharmaceutical composition comprising said oligonucleotide. This oligonucleotide is able to bind to a region of a first exon from a dystrophin pre-mRNA and to a region of a second exon within the same pre-mRNA, wherein said region of said second exon has at least 50% identity with said region of said first exon, wherein said oligonucleotide is suitable for the skipping of said first and second exons of said pre-mRNA, and preferably the entire stretch of exons in between.

The present invention is directed to the modulation of lipid rafts, caveolin proteins, or caveolar functions and processes by platinum(IV) compounds. Caveolae and / or lipid rafts are associated with cell transcription regulation, membrane and cellular transport, cell membrane receptor function, cellular trafficking, antigen presentation, cell differentiation and activation, cytokine modulation, membrane structure and function, and protein modulation. Caveolae, caveolin proteins and lipid rafts are known therapeutic targets for numerous biological functions. Diseases and disorders currently known to be therapeutically targeted through caveolae and / or lipid rafts include diabetes, cancer, cardiovascular diseases, atherosclerosis, pulmonary fibrosis, multiple sclerosis, viral and prion diseases, neuronal disorders, degenerative muscular dystrophies, and autoimmune disorders.

The invention relates to the treatment, diagnosis, and prognosis of a muscular dystrophy or myopathy. The present inventors have found that the quantity of mu-crystallin is increased in a muscular dystrophy. In particular, the inventors have found that mu-crystallin is increased in facioscapulohumeral muscular dystrophy (FSHD). Based on the inventors' findings, the invention provides a novel means for the treatment, diagnosis, and prognosis of a muscular dystrophy or myopathy.

Swine animal models comprising a genomic disruption of an endogenous gene chosen from the group consisting of a Low-Density Lipoprotein Receptor gene LDLR, Duchene's Muscular Dystrophy (DMD) gene, and hairless gene (HR). Methods of preparing transfected cells useful for making a transgenic animal comprising exposing a first group of cells to a transfection agent and reseeding the group with additional cells that have not been exposed to the agent. The transgenic animals are useful for medical and scientific animal models of human diseases and conditions, as well as sources for cells, tissues, and biomaterials.

Duchenne muscular dystrophy (DMD) is an inherited X-linked disease caused by mutations in the gene encoding dystrophin, a protein required for muscle fiber integrity. The disclosure reports CRISPR / Cas9-mediated gene editing (Myo-editing) is effective at correcting the dystrophin gene mutation in the mdx mice, a model for DMD. Further, the disclosure reports optimization of germline editing of mdx mice by engineering the permanent skipping of mutant exon (exon 23) and extending exon skipping to also correct the disease by post-natal delivery of adeno-associate virus (AAV). AAV-mediated Myo-editing can efficiently rescue the reading frame of dystrophin in mdx mice in vivo. The disclosure reports means of Myo-editing-mediated exon skipping has been successfully advanced from somatic tissues in mice to human DMD patients-derived iPSCs (induced pluripotent stem cells). Custom Myo-editing was performed on iPSCs from patients with differing mutations and successfully restored dystrophin protein expression for all mutations in iPSCs-derived cardiomyocytes.

The invention features methods for treating a patient suffering from muscular dystrophy by administration of umbilical cord blood cells, e.g., by IV infusion.

Compositions and methods for identifying new treatments for Facioscapulohumeral muscular dystrophy (FSHD), and uses thereof.

A method of treating a muscular dystrophy disease in a patient includes administering an effective amount of a botanical drug isolated from Andrographis paniculata in combination with cell therapy. The method improves skeletal muscle performance.

The present invention relates to methods and agents useful for treating muscular dystrophy. Methods and agents for treating various physiological and pathological features associated with muscular dystrophy are also provided.

The present invention relates to novel α-keto carbonyl calpain inhibitors for the treatment of neurodegenerative diseases and neuromuscular diseases including Duchenne Muscular Dystrophy, Becker Muscular Dystrophy and other muscular dystrophies. Disuse atrophy and general muscle wasting can also be treated. Diseases of the eye, in particular cataract, can be treated as well. Generally all conditions where elevated levels of calpains are involved can be treated. The compounds of the invention may also inhibit other thiol proteases such as cathepsin B, cathepsin H, cathepsin L, papain or the like. Multicatalytic Protease (MCP) also known as proteasome may also be inhibited and the compounds can therefore be used to treat cell proliferative diseases such as cancer, psoriasis, and restenosis. The compounds of the present invention are also inhibitors of cell damage by oxidative stress through free radicals and can be used to treat mitochondrial disorders and neurodegenerative diseases, where elevated levels of oxidative stress are involved.

The invention provides, among other aspects, compositions and methods for treating, preventing, and diagnosing diseases or conditions associated with an abnormal level or activity of biglycan; diseases or conditions associated with an abnormal level or activity of collagen VI; disorders associated with an unstable cytoplasmic membrane, due, e.g., to an unstable dystrophin associated protein complex (DAPC); and disorders associated with abnormal synapses or neuromuscular junctions, including those resulting from an abnormal MuSK activation or acetylcholine receptor (AChR) aggregation.

The present disclosure provides compositions and sequences for the diagnosis, genetic therapy of certain muscular dystrophies, especially muscular dystrophy resulting from a deficiency in dystrophin protein or a combined deficiency in dystrophin and utrophin, and methods and compositions for the identification of compounds which increase expression of the α7 integrin. Expression of the integrin αBX2 polypeptide in muscle cells results in better physical condition in a patient or an animal lacking normal levels of dystrophin or dystrophin and utrophin. The present disclosure further provides immunological and nucleic acid based methods for the diagnosis of scapuloperoneal muscular dystrophy, where there is a reduction in or absence of α7A integrin expression in muscle tissue samples and normal levels of laminin-2 / 4 in those same samples. The present disclosure further provides methods for identifying compositions which increase the expression of α7 integrin protein in muscle cells of dystrophy patients.

The invention provides methods and compositions for treating neuromuscular diseases including, but not limited to muscular dystrophies. It is demonstrated herein that statin drugs are therapeutic for neuromuscular disease, including, but not limited to muscular dystrophies.

The mdx mouse is a model of Duchenne muscular dystrophy. The present invention describes that mdx mice exhibited clinically relevant cardiac phenotypes. A non-invasive method of recording electrocardiograms (ECGs) was used to a study mdx mice (n=15) and control mice (n=15). The mdx mice had significant tachycardia, consistent with observations in patients with muscular dystrophy. Heart-rate was nearly 15% faster in mdx mice than control mice (P<0.01). ECGs revealed significant shortening of the rate-corrected QT interval duration (QTc) in mdx mice compared to control mice (P<0.05). PR interval duration were shorter at baseline in mdx compared to control mice (P<0.05). The muscarinic antagonist atropine significantly increased heart-rate and decreased PR interval duration in C57 mice. Paradoxically, atropine significantly decreased heart-rate and increased PR interval duration in all mdx mice. Pharmacological autonomic blockade and baroreflex sensitivity testing demonstrated an imbalance in autonomic nervous system modulation of heart-rate, with decreased parasympathetic activity and increased sympathetic activity in mdx mice. These electrocardiographic findings in dystrophin-deficient mice provide new bases for diagnosing, understanding, and treating patients with Duchenne muscular dystrophy.

Compositions and methods for treatment of individuals diagnosed with a dystrophin deficiency are disclosed. In particular, inhibitors of NFκB transactivation and / or inhibitors that suppress p65 expression are used to prevent and / or reverse muscle damage in animals or humans lacking dystrophin. Such compositions and methods are useful in the treatment of individuals with muscular dystrophy.