34 results about "Prader�Willi syndrome" patented technology

The present invention is related to compounds of formula (I), or a therapeutically suitable salt or prodrug thereof, the preparation of the compounds, compositions containing the compounds and the use of the compounds in the prevention or treatment of disorders regulated by the action of ghrelin receptor, including Prader-Willi syndrome, eating disorder, weight gain, weight-loss maintainance following diet and exercise, obesity, and disorders associated with obesity such as noninsulin dependent diabetes mellitus.

This invention relates to treating Prader-Willi Syndrome (PWS) using a KATP channel opener. The channel opener may be coadministered with other therapies used to treat PWS, such as human growth hormone, a wakefulness promoting agent, or a psychiatric or mood stabilizing drug, thereby allowing the baseline dosages of these other therapies to be decreased or making these other therapies unnecessary. The invention also relates to treating PWS based on the PWS nutritional phase of a patient, to prevent the patient's PWS nutritional phase from progressing or shift the patient's PWS nutritional phase back to an earlier phase. The invention further relates to treating PWS, and conditions associated with low basal metabolic rate or hyperphagia, with the KATP channel opener based on a patient's blood ketone levels.

The invention belongs to the technical field of biology, and particularly relates to a molecular combination probe for diagnosing and screening chromosome microdeletion syndrome. The molecular combination probe is used for selecting the key gene of the Williams syndrome, the 22q11 microdeletion syndrome, the Prader-Willi syndrome, the Angelman syndrome, the 15q13.3 microdeletion syndrome and the Rett syndrome, or the gene within a critical area, or the gens arranged at two ends within a duplication / deletion fragment, selecting the sequence which meets a corresponding condition as a probe sequence according to the sequence of the gene, and adding a general primer sequence and adding a phosphorylation mark to the 5'end of a probe left-half sequence and the 3'end of a right-half probe to prepare the combination probe for the multiple continuous probe amplification technology. According to the combination probe provided by the invention, the defects of the fluorescent quantitative PCR (polymerase chain reaction) can be overcome, a plurality of sequences can be analyzed for once, and the molecular combination probe is higher in resolution ratio, sensitivity and repeatability. The probe can be used for the clinical molecular diagnosing and screening of the six-chromosome microdeletion syndrome.

The present invention relates, in part, to agents for binding and / or inactivating native ghrelin. These agents include those that specifically bind and / or cleave octanoylated native ghrelin. Such agents include antibodies and enzymes. The agents also include those that can be used to generate antibodies that specifically hind and / or cleave octanoylated native ghrelin. Compositions that include the agents are also provided. Further provided are methods of producing and using the agents and compositions thereof. For instance, the agents and compositions can be used to reduce or eliminate the hunger response activity of octanoylated native ghrelin. Therefore, the agents, compositions and methods provided can be used to suppress appetite and / or treat obesity. In addition, the agents, compositions and methods can be used to treat any disease associated with or caused by ghrelin (e.g., Prader-Willi Syndrome).

Provided herein are methods of treating Angelman Syndrome and / or Prader-Willi syndrome, that include administering an effective amount of a T-type calcium channel antagonist to a subject in need of the treatment.

Methods for detecting the methylation status of a target genomic locus are provided. Methods described allow for simultaneous assay of multiple cytosines in a target genomic locus. Assays of multiple cytosines in a target genomic locus provide detection of an aggregate cytosine methylation state of the target genomic locus. Methods to detect methylation of a genomic locus associated with a disease or disorder characterized by aberrant methylation of the genomic locus, such as, but not limited to, Fragile X mental retardation syndrome, Prader-Willi syndrome, Angelman sydrome, Beckwith-Wiedemann syndrome, and Russell-Silverman syndrome, diabetes, cancer, multiple sclerosis or schizophrenia are described herein.

The invention discloses a brain nucleus Granger causal analysis method based on obesity model Prader-Willi syndrome (PWS). The method comprises steps of obtaining functional magnetic resonance data through a resting state scanning method, and preprocessing data, wherein the processing comprises steps of time correction, head movement aligning, space standardization and spatial smoothing; conducting Amplitude Of Low Frequency Fluctuation (ALFF) analysis for preprocessed data, and defining regions of interest in accordance with a brain difference region of a PWS patient and a normal control group; and conducting the Granger causal analysis, selecting two regions from regions of interest, extracting time sequences of two regions, calculating the Granger causal value between two regions through a two-phase autoregression module, and conducting normalization for the Granger causal value. By the aid of the method, the abnormal drive action of amygdaloid nucleus on hypothalamus is found, the energy balance of the hypothalamus is damaged, the PWS patient overeats and is fat, the target spot is found for the clinical treatment, the iconography evidence is provided and the good research result is obtained.

Provided are immediate or prolonged administration of certain potassium ATP (KATP) channel openers, optionally in combination with growth hormone, to a subject to achieve novel pharmacodynamic, pharmacokinetic, therapeutic, physiological, metabolic and compositional outcomes in the treatment of diseases or conditions involving KATP channels. Also provided are pharmaceutical formulations, methods of administration and dosing of KATP channel openers that achieve these outcomes and reduce the incidence of adverse effects in treated individuals. Further provided are methods of co-administering KATP channel openers with other drugs (e.g., in combination with growth hormone) to treat diseases of humans and animals (e.g., Prader-Willi Syndrome (PWS), Smith-Magenis syndrome (SMS), and the like.

The invention discloses an application of a composition packet in preparing food, medicines, health care products and nutrition for improving and treating human Prader-Willi syndrome. The composition packet includes the following compositions each of which is in a uniform dose unit form convenient for dose administration, and each dose unit form is a single-dose physical dispersing unit, wherein the first composition consists of coix seeds, oats, buckwheat, semen lablab album, yellow corn, semen phaseoli, soybeans, rhizoma dioscoreae, fructus ziziphi jujubae, peanuts, lotus seeds and fruits of Chinese wolfberry; the first composition can also consist of rye, wheat, quinoa and hulless barley; the second composition consists of fructus momordicae charantiae, soluble dietary fibers and oligosaccharide; and the third composition consists of soluble dietary fibers and oligosaccharide. By reasonably adjusting the diet nutrition of patients with the human Prader-Willi syndrome, the purposes of relieving, removing, remedying, preventing or improving the symptoms of the human Prader-Willi syndrome and recovering health can be achieved.

The present compounds are oxytocin receptor agonists for the treatment of autism, stress, including post-traumatic stress disorder, anxiety, including anxiety disorders and depression, schizophrenia, psychiatric disorders and memory loss, alcohol withdrawal, drug addiction and for the treatment of Prader-Willi Syndrome.

A neutralizing epitope is identified within amino acids 1-3 of desacyl ghrelin. Antibodies that bind this epitope fall within the scope of the invention and can be murine, chimeric, or humanized antibodies, immunoconjugates of the antibodies, or antigen-binding fragments thereof. The antibodies of the invention are useful for the treatment or prevention of obesity and related disorders including, for example, Type II non-insulin dependent diabetes mellitus (NIDDM), Prader-Willi syndrome, eating disorders, hyperphagia, and impaired satiety. Additionally, such antibodies can be useful for the treatment or prevention of other disorders, including anxiety, gastric motility disorders (including e.g., irritable bowel syndrome and functional dyspepsia), insulin resistance syndrome, metabolic syndrome, dyslipidemia, atherosclerosis, hypertension, hyperandrogenism, polycystic ovarian syndrome, cancer, and cardiovascular disorders by administering a therapeutically effective amount of an anti-desacyl ghrelin monoclonal antibody of the invention.

The present invention is related to compounds of formula (I), or a therapeutically suitable salt or prodrug thereof, the preparation of the compounds, compositions containing the compounds and the use of the compounds in the prevention or treatment of disorders regulated by the action of ghrelin receptor, including Prader-Willi syndrome, eating disorder, weight gain, weight-loss maintainance following diet and exercise, obesity and disorders associated with obesity such as non-insulin dependent diabetes mellitus.

The invention belongs to the technical field of biology, and relates to a combination probe for screening multiple anomalysyndrome, and in particular relates to combination probe for screening the multiple continuous probe amplification of the multiple anomalysyndrome. The combination probe is used for selecting the key gene of the 1p36 microdeletion syndrome, the Sotos syndrome, the 18 down syndrome, the CHARGE syndrome, the Williams Beuren syndrome, the 22q11 microdeletion / duplication syndrome, the 21 down syndrome, the Smith Magenis syndrome, the 13 down syndrome, the Cri du Chat syndrome, the Prader Willi syndrome, the WolfHirschhorn syndrome and the 17q21.31 microdeletion syndrome, or the gene within a critical area, or the gens arranged at two ends within a duplication / deletion fragment, selecting the sequence which meets a corresponding condition as a probe sequence according to the sequence of the gene; and adding a general primer sequence and adding a phosphorylation mark to the 5'end of a probe left-half sequence and the 3'end of a right-half probe to synthesize the combination probe for the multiple continuous probe amplification. The probe can be used for preliminarily screening the multiple anomalysyndrome.

The present compounds compounds are oxytocin receptor agonists for the treatment of autism, stress, including post traumatic stress disorder, anxiety, including anxiety disorders and depression, schizophrenia, psychiatric disorders and memory loss, alcohol withdrawal, drug addiction and for the treatment of Prader-Willi Syndrome.

The invention relates to application of lactobacillus reuteri in preparation of products for preventing or treating developmental disorder diseases. The preservation number of the lactobacillus reuteri is CGMCC (China General Microbiological Culture Collection Center) No. 21577. The lactobacillus reuteri can improve the composition of intestinal flora of patients with developmental disorder diseases such as the Prallard-Willard syndrome and the autism, and improve the disorder of the intestinal flora. The bacteria can prevent obesity or promote weight loss caused by diet, can improve brain development of patients with developmental disorder diseases such as the Prallard-Willie syndrome and autism, can improve social contact disorders and communication disorders of the patients, and can improve fine exercise ability of the patients.

The disclosure is related to a method of treating a disorder, such as Prader Willi Syndrome (PWS), obesity or hyperphagia, in a subject using a melanocortin-4 receptor (MC4R) agonist. Also described is method of treating a subject having a deficiency in the pro-opiomelanocortin (POMC)-MC4R pathway, such as a POMC-null or a PCSK-null subject, using a MC4R agonist.

The present disclosure is directed to the treatment of diseases or conditions characterized by the buildup of fatty tissue, or hyperphagia, such as Prader-Willi syndrome, obesity, metabolic syndrome, type II diabetes, etc. A composition containing a monoclonal antibody directed against gastric inhibitory polypeptide is administered. This results in a reduced rate of weight gain, weight loss, and / or reduction in fatty tissue, and a marked decrease in lipid synthesis and accumulation.

Small molecule ghrelin O-acyltransferase inhibitors found using an assay to detect ghrelin O-acyltransferase activity using an acrylodan-labeled peptide mimic of ghrelin that provides for high-throughput screening for ghrelin O-acyltransferase inhibitors and detection via high performance liquid chromatography. The newly discovered class of synthetic triterpenoids efficiently inhibits ghrelin acylation by GOAT and function as covalent reversible inhibitors of GOAT. In cell studies, the most potent members of this family of compounds efficiently block ghrelin acylation at submicromolar concentrations and offer a foundation for continued development and evaluation of novel hGOAT inhibitors as therapeutics targeting disorders such obesity, type II diabetes, gastroparesis, and Prader-Willi syndrome.

Methods of treating depression, binge eating disorder, narcolepsy, excessive daytime sleepiness, substance use disorders, and Prader Willi syndrome, disorders characterized at least in part by hypocortisolemia and decreased activity of the hypothalamic-pituitary-adrenal (HPA) axis, and disorders related to disturbances in circadian rhythm, comprising the step of administering an effective amount of a histamine type 3 (H3) receptor antagonist, such as betahistine or its pharmaceutically acceptable salts, or its metabolites to an individual.

Methods of treating depression, binge eating disorder, narcolepsy, excessive daytime sleepiness, substance use disorders, and Prader Willi syndrome, disorders characterized at least in part by hypocortisolemia and decreased activity of the hypothalamic-pituitary-adrenal (HPA) axis, and disorders related to disturbances in circadian rhythm, comprising the step of administering an effective amount of a histamine type 3 (H3) receptor antagonist, such as betahistine or its pharmaceutically acceptable salts, or its metabolites to an individual.

Provided are immediate or prolonged administration of certain potassium ATP (KATP) channel openers, optionally in combination with growth hormone, to a subject to achieve novel pharmacodynamic, pharmacokinetic, therapeutic, physiological, metabolic and compositional outcomes in the treatment of diseases or conditions involving KATP channels. Also provided are pharmaceutical formulations, methods of administration and dosing of KATP channel openers that achieve these outcomes and reduce the incidence of adverse effects in treated individuals. Further provided are methods of co-administering KATP channel openers with other drugs (e.g., in combination with growth hormone) to treat diseases of humans and animals (e.g., Prader-Willi Syndrome (PWS), Smith-Magenis syndrome (SMS), and the like.

The present disclosure provides pharmaceutical compositions comprising a fatty acid amide of an amino acid as defined herein, such as oleoyl-α-methyl-serine, or a stereoisomer or salt thereof, for improving, as in increasing or preventing loss of, bone mineral density and / or treating osteoporosis in patients suffering from Prader-Willi syndrome; and their methods of use.

Provided are immediate or prolonged administration of certain potassium ATP (KATP) channel openers, optionally in combination with growth hormone, to a subject to achieve novel pharmacodynamic, pharmacokinetic, therapeutic, physiological, metabolic and compositional outcomes in the treatment of diseases or conditions involving KATP channels. Also provided are pharmaceutical formulations, methods of administration and dosing of KATP channel openers that achieve these outcomes and reduce the incidence of adverse effects in treated individuals. Further provided are methods of co-administering KATP channel openers with other drugs (e.g., in combination with growth hormone) to treat diseases of humans and animals (e.g., Prader-Willi Syndrome (PWS), Smith-Magenis syndrome (SMS), and the like.

Compositions and methods are disclosed that relate to small molecule lipopeptidomimetic inhibitors of mammalian ghrelin O-acyl transferase (GOAT). Compounds of general Formula (I) and substructures thereof, i.e., Formulae (II), (IIa), (IIa1), (IIa2), (IIb), (IIb1), (IIb2), (IIc) and (III), are shown to exhibit potent inhibition of the octanoylation of ghrelin peptide, where the resulting non-octanoylated (des-acyl) form of ghrelin lacks GHSr ligand activity that is associated with weight gain and insulin resistance. These and related embodiments will find uses for treating subjects known to have, or suspected of being at risk for having, a condition that would benefit from a decreased level of acylated ghrelin peptide, such as type II diabetes, impaired glucose tolerance, insulin resistance, Prader-Willi syndrome (PWS) and obesity.

The present compounds compounds are oxytocin receptor agonists for the treatment of autism, stress, including post traumatic stress disorder, anxiety, including anxiety disorders and depression, schizophrenia, psychiatric disorders and memory loss, alcohol withdrawal, drug addiction and for the treatment of Prader-Willi Syndrome.