152 results about "Myopathy" patented technology

Disclosed are water-soluble gel-based compositions for the delivery of recombinant adeno-associated virus (rAAV) vectors that express nucleic acid segments encoding therapeutic constructs including peptides, polypeptides, ribozymes, and catalytic RNA molecules, to selected cells and tissues of vertebrate animals. Also disclosed are gel-based rAAV compositions are useful in the treatment of mammalian, and in particular, human diseases, including for example, cardiac disease or dysfunction, and musculoskeletal disorders and congenital myopathies, including, for example, muscular dystrophy, acid maltase deficiency (Pompe's disease), and the like. In illustrative embodiments, the invention provides rAAV vectors comprised within a biocompatible gel composition for enhanced viral delivery / transfection to mammalian tissues, and in particular to vertebrate muscle tissues such as a human heart or diaphragm tissue.

Methods of treating or suppressing mitochondrial diseases, such as Friedreich's ataxia (FRDA), Leber's Hereditary Optic Neuropathy (LHON), mitochondrial myopathy, encephalopathy, lactacidosis, and stroke (MELAS), Kearns-Sayre Syndrome (KSS), are disclosed, as well as compounds useful in the methods of the invention, such as 4-(p-quinolyl)-2-hydroxybutanamide derivatives. Methods and compounds useful in treating other disorders such as amyotrophic lateral sclerosis (ALS), Huntington's disease, Parkinson's disease, and pervasive developmental disorders such as autism are also disclosed. Energy biomarkers useful in assessing the metabolic state of a subject and the efficacy of treatment are also disclosed. Methods of modulating, normalizing, or enhancing energy biomarkers, as well as compounds useful for such methods, are also disclosed.

The present invention relates to methods of using granulocyte colony stimulating factor (G-CSF) polypeptide, alone and in conjunction with stromal cell derived factor (SDF-1) polypeptide, to increase the mobilization of c-Kit+ stem cells in the blood, bone marrow, tissue, heart or other organs for the subsequent production of embryoid body-like cell clusters. These embryoid body-like cell clusters can be used for cell replacement therapy, for the treatment of cardiac myopathy and other diseases and disorders, and for screening agents that drive or inhibit differentiation and proliferation.

Methods and devices for improved targeting to a site in an organism, particularly to a tumor target site and for extracorporeal affinity adsorption, particularly in the treatment of cancer, atherosclerosis, including coronary artery disease, unstable angina, other acute ischemic syndromes and idiopathic dilated cardiac myopathy. In one aspect of the invention, a combination is provided comprising an extracorporeal device (1) having contained therein a binding compound (11) bound to a carrier (9), the binding compound having affinity for a binding partner, and a plurality of affinity binders (15), each of said affinity binders comprising a first portion (19) comprising the binding partner and a second portion (17) adapted to bind selectively with a species, the second portions of each of said affinity binders differing from each other.

Vegetarian amino acid sources are combined to create a protein blend that closely matches human muscle tissue in terms of amino acid composition. “Closely matching” means that the amino acid composition of the protein blend is within five percent (5%) of the amino acid composition of human muscle for all of the amino acids of the human muscle. The protein blend can be used as food or food supplement to facilitate and bolster muscle anabolism for healthy humans desiring such result and also to treat and or ameliorate the effects of certain diseases and conditions such as sarcopenia, cancer cachexia, HIV wasting, malnutrition, primary muscle diseases (myopathy) and side effects of corticosteroid therapy.

The invention relates to the technical field of biology and particularly relates to a non-treatment-purpose method for screening mutation of pathogenic genes relevant with hypertrophic cardiac myopathy. The method comprises the following steps: (1) extracting genomes; (2) carrying out multiplex PCR amplification on target genes; (3) constructing a target gene library; and (4) sequencing the target gene library by virtue of a next-generation semiconductor sequencing platform, and screening gene mutation sites relevant with the hypertrophic cardiac myopathy. The method is simple, convenient, rapid and low in cost, multiple samples can be detected once, the foundation is laid for the screening of the hypertrophic cardiac myopathy, and the road is exploited for the clinic molecular diagnosis.

The present invention relates to solid pharmaceutical combinations for oral administration comprising nicotinic acid or a nicotinic acid compound or mixtures thereof in an extended release form and an HMG-CoA reductase inhibitor, which are useful for altering lipid levels in subjects suffering from, for example, hyperlipidemia and atherosclerosis, without causing drug-induced hepatotoxicity, myopathy or rhabdomyolysis. The present invention also relates to methods of altering serum lipids in subjects to treat, for example, hyperlipidemia in hyperlipidemics, lipidemia in normolipidemics diagnosed with or predisposed to cardiovascular disease, and atherosclerosis, by administering such oral solid pharmaceutical combinations once per day as a single dose during the evening hours, without causing drug-induced hepatotoxicity, myopathy or rhabdomyolysis, or without causing in at least an appreciable number of individuals drug-induced hepatotoxicity, myopathy or rhabdomyolysis to such a level that discontinuation of such therapy would be required. More particularly, the present invention concerns oral solid pharmaceutical combinations comprised of, for example, (1) an HMG-CoA reductase inhibitor for immediate or extended release, (2) nicotinic acid, a nicotinic acid compound or mixtures thereof, and (3) a swelling agent to form a sustained release composition for extended release of the nicotinic acid or nicotinic acid compound or mixtures thereof for nocturnal or evening dosing for reducing serum lipids and increasing HDL-cholesterol. In accordance with the present invention, and by way of example, a composition for oral administration during the evening hours to alter serum lipids comprised of nicotinic acid and hydroxypropyl methylcellulose in the form of an extended or sustained release tablet or caplet coated with a coating comprising an HMG-CoA reductase inhibitor in immediate release form is disclosed. Also in accordance with the present invention, the pharmaceutical combinations may include a nonsteroidal anti-inflammatory agent for reducing the capacity of nicotinic acid or nicotinic acid compounds to provoke flushing reactions in individuals.

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 invention relates a pharmaceutical composition comprising a combination of:(i) the AT 1-antagonist valsartan or a pharmaceutically acceptable salt thereof; and(ii) a NEP inhibitor or a pharmaceutically acceptable salt thereof and optionally a pharmaceutically acceptable carrier and to a method for the treatment or prevention of a condition or diseaseselected from the group consisting of hypertension, heart failure, such as (acute and chronic) congestive heart failure, left ventricular dysfunction and hypertrophic cardiomyopathy, diabetic cardiac myopathy, supraventricular and ventricular arrhythmias, atrial fibrillation, atrial flutter, detrimental vascular remodeling, myocardial infarction and its sequelae, atherosclerosis, angina (whether unstable or stable), renal insufficiency (diabetic and non-diabetic), heart failure, angina pectoris, diabetes, secondary aldosteronism, primary and secondary pulmonary hypertension, renal failure conditions, such as diabetic nephropathy, glomerulonephritis, scleroderma, glomerular sclerosis, proteinuria of primary renal disease, and also renal vascular hypertension, diabetic retinopathy, the management of other vascular disorders, such as migraine, peripheral vascular disease, Raynaud's disease, luminal hyperplasia, cognitive dysfunction, such as Alzheimer's, glaucoma and stroke, comprising administering a therapeutically effective amount of the pharmaceutical composition to a mammal in need thereof.

Provided herein are therapeutic and / or prophylactic compounds for mitochondrial or oxidative stress diseases such as cancer, amyotrophic lateral sclerosis, Creutzfeldt-Jakob disease, Machado-Joseph disease, spinocerebellar ataxia, Huntington disease, Parkinson disease, Alzheimer disease, myocardial infarction, cerebral infarction, diseases related to aging, diabetes, alcoholic liver injury, chronic obstructive pulmonary disease, mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), and the like, wherein the compound is represented by formula (1), or reduced forms thereof, or pharmaceutically acceptable salts thereof.

The present invention relates generally to nucleic acid molecules expressed at least in the hypothalamus, liver, mesenteric adipose tissue, or red gastrocnemius muscle conveniently identified using differential display techniques under differing physiological conditions. The nucleic acid molecules are associated with or act as markers for conditions of inter alia a healthy state, myopathy, obesity, anorexia, weight maintenance, diabetes, disorders associated with mitochondrial dysfunction, genetic disorders and / or metabolic energy levels. More particularly, the present invention is directed to a nucleic acid molecule and / or its expression product for use in therapeutic and diagnostic protocols for conditions such as inter alia a myopathy, obesity, anorexia, weight maintenance, diabetes, disorders associated with mitochondrial dysfunction, genetic disorders and / or metabolic energy levels. The subject nucleic acid molecule and expression product and their derivatives, homologs, analogs and mimetics are proposed to be useful, therefore, as therapeutic and diagnostic agents for inter alia a myopathy, obesity, anorexia, weight maintenance, diabetes, disorders associated with mitochondrial dysfunction, genetic disorders and / or metabolic energy levels or as targets for the design and / or identification of modulators of their activity and / or function.

Pharmaceutical compositions comprising the 2S,4R ketoconazole enantiomer or its pharmaceutically acceptable salts, hydrates, and solvates are useful to increase cardiolipin synthesis and for the treatment of Barth Syndrome, diabetic myopathy, cardiomyopathy associated with aging, mitochondrial disease, and other conditions and disorders where cardiolipin deficiency plays a causative or symptomatic role.

This invention relates to a method of determining the susceptibility of an individual to statin-induced myopathy, comprising detecting the presence or absence of one or more polymorphisms in the SLCO1B1 gene in a biological sample from an individual, whereby the presence of one or more polymorphisms indicates that the individual has altered susceptibility to statin-induced myopathy.

The invention provides a method for determining content of various components in a Chinese medicinal composition freeze-dried injection. The Chinese medicinal freeze-dried injection comprises ginseng and epimedium herb which serve as raw materials and is clinically used for treating amyotrophy and myasthenia gravis which are caused by diseases such as motoneuron diseases (amyotrophic lateral sclerosis, progressive spinal muscular atrophy, progressive bulbar palsy and primary lateral sclerosis), progressive muscular dystrophy, congenital myopathy and the like. In the method, 15 active compounds in the Chinese medicinal freeze-dried injection are qualitatively and quantitatively analyzed simultaneously by a tandem mass spectrometry of a high performance liquid chromatography, and the method can be used for quality control of a product.

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.

A method of pretreating healthy donor's myoblast cultures with growth or trophic factors like basic fibroblast growth factor (bFGF) and with concanavalin A on transplantation to subjects suffering of myopathy like muscular dystrophy is disclosed and claimed. Recipient muscles show a higher percentage of functional cells, a four-fold increase, demonstrated by the higher incidence of dystrophin-positive fibers, and does not require previous preconditioning of recipient muscles by irradiation or toxin administration. The recipient subjects were immunosuppressed with FK 506. When growing myoblasts with 20 mug / ml concanavalin A or 100 ng / ml TPA for two to four days, migration of donor cells in recipient tissue was increased by 3-4 fold. This suggests that, when using primary cultures, metalloproteases are secreted by fibroblasts, resulting in a greater degradation of the extracellular matrix. Both metalloproteases and bFGF appear beneficial for the success of the transplantation. The use of recombinant myoblast expressing metalloproteases is also contemplated.

The invention provides a method for determining residual organic solvents in the freeze-dried injection of a traditional Chinese medicine composition. The raw materials of the freeze-dried injection of the Chinese medicine include ginseng and epimedium, which are clinically used for motor neuron diseases (amyotrophic lateral sclerosis, amyotrophic lateral sclerosis, spinal muscular atrophy, progressive bulbar palsy, primary lateral sclerosis), progressive muscular dystrophy, congenital myopathy and other diseases caused by muscular atrophy and myasthenia gravis, the method of the present invention uses the top The residual amount of organic solvent can be determined by air chromatography, which can be used for the quality control of the product.

The invention provides a traditional Chinese medicinal composition freeze-drying injection and a preparation method thereof. The traditional Chinese medicament freeze-drying injection is prepared from raw materials comprising ginseng and epimedium herb by extraction and refinement of a modern process and then by a freeze-drying process. The traditional Chinese medicament preparation meets technical requirements of the State Food and Drug Administration (SFDA) on the traditional Chinese medicament injection and is clinically applied to treatment on amyotrophy and myasthenia gravis caused by diseases such as motor neuron diseases (amyotrophic lateral sclerosis, progressive spinal muscular atrophy, progressive bulbar palsy and primary lateral sclerosis), progressive myodystrophy, congenital myopathy and the like. The traditional Chinese medicament freeze-drying injection is administrated clinically through intravenous, intramuscular or acupoint injection.

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 present disclosure relates to an inhibitor of Dynamin 2 for use in the treatment of centronuclear myopathies. The present disclosure relates to pharmaceutical compositions containing Dynamin 2 inhibitor and to their use for the treatment of centronuclear myopathies. It also deals with a method for identifying or screening molecules useful in the treatment of a centronuclear myopathy.

The image sorting system sorts normal chicken breast meat fillets from chicken fillets that exhibit wooden breast myopathy (i.e. WB fillets). In the preferred embodiment, a camera and associated controller gather data and construct a digital image of a chicken breast fillet as it travels on a conveyer belt. The digital image is used to calculate a centroid (i.e. center of mass) of the fillet. As the fillet moves over a nose of the conveyor belt and free-falls to a lower conveyor belt, the controller determines the distance between the fillet centroid and a reference point (preferably the conveyer belt axis of rotation). If the distance exceeds a predetermined minimum distance, the fillet is designated a WB fillet.

The present invention inter alia provides a method, and uses thereof, of predicting statin-induced muscle toxicity or its complications, such as myalgia, myopathy and rhabdomyolysis, by detecting the lipid concentrations or lipid-lipid concentration ratios of a biological sample and comparing them to a control. This method has identified lipid markers that are more specific and sensitive in detecting these statin-induced muscle toxicity than the currently utilized clinical markers. Also provided is an antibody towards said lipids, and the use thereof for predicting, diagnosing, statin-induced muscle toxicity. The invention additionally relates to kits comprising lipids and / or an antibody thereto, for use in the prediction and / or diagnosis of statin-induced muscle toxicity.

The invention relates to a medicine composition composed of 0.1-100mg of one of statin lipid regulation medicines, 0.1-5mg of 5-methyltetrahydrofolic acid, and a pharmaceutically acceptable carrier. The invention also provides an application of the medicine composition in preparing medicines used for treating diseases related to hyperlipidemia or dyslipidemia. The composition provided by the invention has the advantages that: with the medicine composition, statin lipid-regulation medicine treatment effect can be improved. The effect is substantially better than other independent-use statin lipid-regulation medicines in the respect of reducing side effects such as transaminase elevation and myopathy caused by long-term and / or large-dose applications of statin medicines, and toxicity is not increased. Also, the composition is more convenient to take. With the composition, medical cost is reduced, and patient compliance is improved.

This invention provides a method for enhancing utrophin protein production in a cell by inhibiting an utrophin microRNA molecule. Moreover, the invention provides that methods for enhancing utrophin protein production in a muscle cell are used for treating a muscular dystrophy and / or other myopathies.

The presently invention relates to methods, formulations and kits comprising deuterated trehalose for treating myopathies, neurodegenerative disorders, or tauopathies associated abnormal protein aggregation.