130 results about "Duchenne muscular dystrophy" patented technology

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

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

Antisense molecules capable of binding to a selected target site in the human dystrophin gene to induce exon 44 skipping are described.

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

Certain disclosed oligomers induce exon skipping during processing of myostatin pre-mRNA. The oligomers may be in a vector or encoded by the vector. The vector is used for inducing exon skipping during processing of myostatin pre-mRNA. A therapeutically effective amount of the oligomer may be administered to a subject patient such that exon skipping during processing of myostatin pre-mRNA is induced. The administration to a subject may be used in order to increase or maintain muscle mass, or slowing degeneration of muscle mass in the subject. The administration to a subject may ameliorate muscle wasting conditions, such as muscular dystrophy. Examples of such muscular dystrophies which may be so treated include Becker's muscular dystrophy, congenital muscular dystrophy, Duchenne muscular dystrophy, distal muscular dystrophy, Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy (FSHD), limb-girdle muscular dystrophy, myotonic muscular dystrophy, and oculopharyngeal muscular dystrophy

A Chinese medicine for treating the myophagism and myasthenia gravis caused by motor neuron diseases, prograssive myodystrophy and congenital myopathy is prepared from ginseng and epimedium. Its preparing process is also disclosed.

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.

The use of therapeutics capable of inhibiting complement such as an anti-C5 antibody to treat muscular dystrophy associated with dysferlin-deficiency is disclosed.

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

The invention discloses a DMD (Duchenne muscular dystrophy) gene capture probe and application thereof in DMD gene mutation detection. A preparation method of the DMD gene capture probe disclosed herein comprises: preparing N sub-probes, connecting the sub-probes to obtain the DMD gene capture probe; N is a natural number greater than or equal to 2; the N sub-probes can cover whole sequences of DMD gene; any two adjoining sub-probes on the DMD gene meet the case where there is one or more downstream nucleotide to the corresponding upstream sub-probe, which overlap with the upstream of the corresponding downstream sub-probe; the length of each of the N sub-probes is 50-150 bp. By detecting the DMD gene with the DMD gene capture probe, it is possible to detect whether the DMD gene experiences amplification mutation deletion / repetition or not, and it is also possible to precisely locate a break point region and the size of fragments and to detect DMD gene site mutations of a sample under detection.

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.

Duchenne muscular dystrophy (DMD) is a progressive muscle disease that is caused by severe defects in the dystrophin gene and results in the patient's death by the third decade. The present invention utilizes the Double Mutant mice (DM) as an appropriate human model for DMD as these mice are deficient for both dystrophin and utrophin (mdx / +, utrn − / −), die at 3 months of age and suffer from severe muscle weakness, pronounced growth retardation, kyphosis, weight loss, slack posture, and immobility. Expression from a transgene of novel human retinal dystrophin Dp260 was shown to prevent premature death and reduce the severe muscular dystrophy phenotype to a mild clinical myopathy. Electromyography, histology, radiography, magnetic resonance imaging, and behavior studies concluded that DM transgenic mice grew normally, had normal spinal curvature and mobility, and had reduced muscle pathology. EMG and histologic data from transgenic DM mice showed decreased abnormalities to levels typical of mild myopathy, while the DM mice exhibited severe abnormalities commonly seen in human dystrophinopathies. The transgenic DM mice also had measurable movement levels comparable to those of untreated mdx mice and controls.

The invention relates to a method and a kit for detecting Duchenne muscular dystrophy gene defects, and a primer composition. For the Duchenne muscular dystrophy gene defects, a pre-embryo implantation genetic detection method which is strong in universality, high in diagnosis rate and low in cost is established in a second-generation sequencing platform. According to the method, multiple PCR is carried out on a detected sample for a coding region locus and a target SNP locus of a Duchenne muscular dystrophy gene, and a library is built; then a multiplex PCR product is subjected to high-throughput sequencing analysis, and a haplotype of a mutant allele is constructed by combining with family information, so that a genotype of an embryo is judged; and finally a Duchenne muscular dystrophy gene defect detection result of an offspring is determined. According to the scheme, a cell level pre-experiment is omitted; and based on a high-throughput sequencing technology, different label sequences can be added to samples, so that a large number of samples can be analyzed at one time, and the average sequencing depth can reach more than 100X.

Administration of a monoamine oxidase inhibitor is useful in the prevention and treatment of muscle dystrophy. Methods and compositions for inhibiting the production of reactive oxygen species in a muscle cell overproducing reactive oxygen species are provided herein.

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 invention discloses a kit for detecting if a duchenne muscular dystrophy (DMD) causing gene has a mutation. The kit comprises the following main components: (1) 79 pairs of primers for PCR amplification and sequencing of 1 to 79 extrons of the DMD causing gene; (2) a polymerase chain reaction (PCR) amplification reagent; (3) a PCR product purification reagent; and (4) a DNA sequencing reagent. The kit disclosed by the invention is used for detecting the mutation of a duchenne muscular dystrophy causing gene, can quickly and conveniently detect people or patient with the DMD causing gene, can be used for prenatal diagnosis, prevention of birth of affected children, and can lower the incidence rate of the DMD.

This invention is directed to substituted acylanilide compounds and uses thereof in treating muscular dystrophies such as Duchenne muscular dystrophy and Becker muscular dystrophy and in improving or preserving lung function and cardiac function in a subject suffering from Duchenne muscular dystrophy.

Nucleotide sequences including a micro-dystrophin gene are provided. The micro-dystrophin genes may be operatively linked to a regulatory cassette. Methods of treating a subject having, or at risk of developing, muscular dystrophy, sarcopenia, heart disease, or cachexia are also provided. The methods may include administering a pharmaceutical composition including the micro-dystrophin gene and a delivery vehicle to a subject. Further, the methods may include administering the pharmaceutical composition a subject having Duchenne muscular dystrophy or Becker muscular dystrophy.

Disclosed herein are vectors that targets a dystrophin gene, encoding at least one Cas9 molecule or a Cas9 fusion protein, and at least one gRNA molecule (e.g., two gRNA molecules), and compositions and cells comprising such vectors. Also provided are methods for using the vectors, compositions and cells for genome engineering (e.g., correcting a mutant dystrophin gene), and for treating DMD.

Combinations comprising (or consisting essentially of) one or more compounds of the formula (I) or (II) with one or more ancillary compounds, to processes for preparing the combinations, and to various therapeutic uses of the combinations. Also provided are pharmaceutical compositions containing the combinations as well as a method of treatment of Duchenne muscular dystrophy, Becker muscular dystrophy or cachexia using the combinations.

Compositions are disclosed comprising mineral / branched-chain amino acid chelates such as, for example, calcium leucinate, for increasing absorption of the branched-amino acid in a human or animal subject. Methods are also provided for using the compositions to increase branched-chain amino acid absorption to increase or maintain muscle mass in athletes or in individuals having diseases such as ALS, muscular dystrophy, sarcopenia associated with aging, or muscle atrophy associated with spinal cord injury, as well as to decrease mental fatigue.

The invention discloses a multiplex PCR (Polymerase Chain Reaction) trapping primer group for a DMD (Duchenne Muscular Dystrophy) gene, a mutation detection kit for the DMD gene and a mutation detection method for the DMD gene. The inventors provide the multiplex PCR trapping primer aiming at the sequences of 79 exons and bilateral 50bp introns and 23 known intron pathogenic mutations of the DMD gene; moreover, the mutation detection method of the DMD gene is provided based on the primer group; the mutation detection method is high in detection sensitivity, good in accuracy, highly consistentin amplification efficiency and low in requirement on quality of a DNA (Deoxyribonucleic Acid) sample, and is used for solving the problem that the complete detection on the mutation information, particularly on loss of heterozygosity / repetition, of the DMD gene is difficultly carried out in one time by adopting a multiplex PCR trapping technique in the prior art.

The new piperazine derivatives are modulators of TRPML and are useful in treating disorders related to TRPML activities such as lysosome storage diseases, muscular dystrophy, age-related common neurodegenerative diseases, oxidative stress or reactive oxygen species (ROS) related diseases, and ageing.

The invention relates to an amplifying system for detecting human DMD (Duchenne muscular dystrophy) gene exon copy number variation. The amplifying system comprises an amplifying composition corresponding to the detection of 10 groups of exon copy number variation, wherein the amplifying composition comprises oligonucleotide sequences as shown from SEQID No.1 to SEQID No.36; the 10 exon purpose fragments including human DMD gene exons 4,8,17,44,45,47,48,50,51,52 are amplified through a real-time multiple fluorescent quantitation PCR reaction; and according to the detection result, whether thehuman DMD gene exon is subjected to deletion mutation or repeat mutation is judged. The invention also discloses a reagent kit for detecting human DMD (Duchenne muscular dystrophy) gene exon copy number variation. The amplifying system disclosed by the invention has the beneficial effects that through the detection result, the distinguishing of DMD carriers from DMD patients and normal people canbe realized, the result is reliable, the repeatability is good, the operation is easy, the equipment requirement is low, and the reagent cost is low; and the amplifying system can cover about 90% of copy number variation in the DMD carriers or the DMD patients, so that good balance between the detection cover degree and the detection exon number is achieved.

The present invention provides an inhibitor of intracellular protein degradation for use in the treatment and prevention of muscular dystrophy in a mammal. In particular, the invention provides an autophagy inhibitor and / or an inhibitor of the ubiquitin-proteasome system (such as a proteasome inhibitor) for use in the treatment and prevention of muscular dystrophy (such as congenital muscular dystrophy [e.g. MDC1A) and Duchenne muscular dystrophy [DMD]). The invention further provides corresponding methods of treatment and prevention of muscular dystrophy.

Patients are treated for muscular dystrophy by artificially increasing effective sarcospan activity in the patient's muscle tissue. Sarcospan (or fragments thereof) can be administered directly to the tissue, or their production can be induced by gene therapy. Modifications are also contemplated to be effective, including for example, a lipid, TAT or other tag. Also contemplated are compositions that include a protein, mRNA or gene stabilizer, degradation inhibitor, and / or oligomerization inhibitor. Increased presence of sarcospan can also be accomplished indirectly, using a vector having an entire sarcospan gene sequence, fragment or related construct, modulating a transcription factor, and so forth.

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 invention relates to application of salidroside in preparing medicine for treating duchenne muscular dystrophy. According to the invention, experimental results show that salidroside can restrain skeletal muscle myolemma from rupture and necrosis, alleviate inflammatory reaction and fibrosis of skeletal muscles and enhance kinetism of skeletal muscles during the animal model paroxysm process of duchenne muscular dystrophy so as to express the function for treating duchenne muscular dystrophy.