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RAPIDLY PROGRESSIVE SPORADIC ALS TEST METHOD, TEST KIT, AND DRUG SCREENING METHOD コモンズ

外国特許コード F160008735
整理番号 NU-653
掲載日 2016年4月28日
出願国 世界知的所有権機関(WIPO)
国際出願番号 2016JP057071
国際公開番号 WO 2016147942
国際出願日 平成28年3月8日(2016.3.8)
国際公開日 平成28年9月22日(2016.9.22)
優先権データ
  • 特願2015-051093 (2015.3.13) JP
発明の名称 (英語) RAPIDLY PROGRESSIVE SPORADIC ALS TEST METHOD, TEST KIT, AND DRUG SCREENING METHOD コモンズ
発明の概要(英語) The present invention addresses the problem of developing a therapeutic drug and treatment method for suppressing the advance of ALS by elucidating the condition and etiology of the disease, especially in sporadic ALS patients. Sporadic ALS patients were classified as four types on the basis of the advance of the condition after onset. Genome-wide association analysis was conducted, and seven SNPs related to the rapidly progressive type that exacerbates rapidly, among the four types, were discovered. It also became apparent that the SNPs are related to titin expression. The SNPs and titin expression can serve as markers of rapidly progressive ALS, and therapeutic and prophylactic methods for suppressing the condition can be developed using these markers.
従来技術、競合技術の概要(英語) BACKGROUND ART
Is ALS, severe muscle atrophy and muscle weakness and interfering with the progressive neurodegenerative diseases, a kind of motor neuron disease. Is ALS, the progress of the extremely fast, respiratory paralysis, dysphagia, quadriplegia impair, 3 years after the onset thereof increases from the die half 5 attached to respiratory or year. 1 In a recent report from Japan year about 10 people per million population in the onset of 2.2, 9.9/10 million prevalence and estimates that the person is. Although it is not a rare disease or for the healing of effective treatment is not currently established.
And 5-10% of familial ALS, many of which are said to be sporadic. Mutation of single genes is developing familial ALS, in recent years, the discovery of novel genes although technical, for sporadic ALS, pathology, clarification of the cause (non-patent document 1) is delayed. Also in sporadic ALS, has been found in a familial ALS is found but the mutation of a gene, many sporadic ALS is multifactorial and is thought to participate in, is not the cause has been revealed.
Single nucleotide polymorphism (single nucleotide polymorphisms, or less, may be referred to as SNPs.) And genome-wide marker is sporadic ALS-related analysis (Genome Wide Association Study, GWAS) genes involved have been made for the study (non-patent document 2). However, associated gene polymorphism has been reported, odds ratio as low as about 1.5, sporadic ALS disease model of construct is insufficient or, in addition, which lacks reproducibility (non-patent document 3).
In addition, for the treatment of ALS, many clinical studies have been tried is, still without effect with respect to, inhibiting the progress of the disease that is satisfactory for modified therapy is at present. In the course of the deterioration of the function of the individual patient ALS may increase has been reported (non-patent document 4, 5), the progression of the disease ALS that the diversity of the results of the analysis of clinical trials difficult, not found in the effective treatment method is the cause.
  • 出願人(英語)
  • ※2012年7月以前掲載分については米国以外のすべての指定国
  • NATIONAL UNIVERSITY CORPORATION NAGOYA UNIVERSITY
  • 発明者(英語)
  • SOBUE GEN
  • ATSUTA NAOKI
  • WATANABE HAZUKI
  • HIRAKAWA AKIHIRO
  • NAKATOCHI MASAHIRO
国際特許分類(IPC)
指定国 National States: AE AG AL AM AO AT AU AZ BA BB BG BH BN BR BW BY BZ CA CH CL CN CO CR CU CZ DE DK DM DO DZ EC EE EG ES FI GB GD GE GH GM GT HN HR HU ID IL IN IR IS JP KE KG KN KP KR KZ LA LC LK LR LS LU LY MA MD ME MG MK MN MW MX MY MZ NA NG NI NO NZ OM PA PE PG PH PL PT QA RO RS RU RW SA SC SD SE SG SK SL SM ST SV SY TH TJ TM TN TR TT TZ UA UG US UZ VC VN ZA ZM ZW
ARIPO: BW GH GM KE LR LS MW MZ NA RW SD SL SZ TZ UG ZM ZW
EAPO: AM AZ BY KG KZ RU TJ TM
EPO: AL AT BE BG CH CY CZ DE DK EE ES FI FR GB GR HR HU IE IS IT LT LU LV MC MK MT NL NO PL PT RO RS SE SI SK SM TR
OAPI: BF BJ CF CG CI CM GA GN GQ GW KM ML MR NE SN ST TD TG
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