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1. 发明申请

WO0020582A3 GENE REPLACEMENT THERAPY FOR MUSCULAR DYSTROPHY 审中-公开
标题翻译：基因替代治疗肌瘤
公开(公告)号：WO0020582A3
公开(公告)日：2000-07-20
申请号：PCT/US9922364
申请日：1999-09-24
申请人： UNIV IOWA RES FOUND
发明人： CAMPBELL KEVIN P , HOLT KATHLEEN H , DUCLOS FRANCK , LIM LELAND E , STRAUB VOLKER , DAVIDSON BEVERLY , WILLIAMSON ROGER
IPC分类号： A61K38/17 , A61K48/00 , C12N15/12 , C12N15/85 , A01K67/027 , A61P21/00 , C12N5/08 , G01N33/50
CPC分类号： C12N15/8509 , A01K67/0276 , A01K2207/15 , A01K2217/00 , A01K2217/075 , A01K2227/105 , A01K2267/0306 , A61K38/1709 , A61K48/00
摘要： Disclosed is a method for treating a patient suffering from the disease sarcoglycan-deficient limb-girdle muscular dystrophy by gene replacement therapy. Sarcoglycan gene replacement therapy produces extensive long-term expression of the sarcoglycan species which restores the entire sarcoglycan complex, results in the stable association of alpha-dystroglycan with the sarcolemma, and eliminates the morphological markers of limb-girdle muscular dystrophy. In another aspect, the invention relates to a method for determining a specific defective sarcoglycan species in the tissue of a patient. In another aspect, the invention relates to a mouse, and cells derived therefrom, homozygous for a disrupted alpha-sarcoglycan gene. In another aspect, the invention relates to methods for screening for therapeutic agents useful in the treatment of sarcoglycan-deficient limb-girdle muscular dystrophy.
摘要翻译：本发明公开了一种通过基因替代疗法治疗患有疾病肌糖肌苷缺乏症的肢体肌营养不良症的患者的方法。 Sarcoglycan基因替代疗法产生广泛的长期表达的sarcoglycan物种，其恢复整个slegoglycan复合物，导致α-dystroglycan与肌膜的稳定关联，并消除肢体肌营养不良的形态学标志物。另一方面，本发明涉及一种用于确定患者组织中的特定缺陷型糖团聚物物种的方法。另一方面，本发明涉及一种小鼠及其衍生的细胞，用于破坏的α-丝裂霉素基因是纯合的。另一方面，本发明涉及筛选用于治疗肌糖原缺乏型肢体肌营养不良症的治疗剂的方法。

2. 发明专利

AU6060999A Gene replacement therapy for muscular dystrophy 未知
公开(公告)号：AU6060999A
公开(公告)日：2000-04-26
申请号：AU6060999
申请日：1999-09-24
申请人： UNIV IOWA RES FOUND
发明人： CAMPBELL KEVIN P , HOLT KATHLEEN H , DUCLOS FRANCK , LIM LELAND E , STRAUB VOLKER , DAVIDSON BEVERLY , WILLIAMSON ROGER
IPC分类号： A61K38/17 , A61K48/00 , C12N15/12 , C12N15/85 , G01N33/50 , A01K67/027 , C12N5/08
摘要： Disclosed is a method for treating a patient suffering from the disease sarcoglycan-deficient limb-girdle muscular dystrophy by gene replacement therapy. Sarcoglycan gene replacement therapy produces extensive long-term expression of the sarcoglycan species which restores the entire sarcoglycan complex, results in the stable association of alphalpha-dystroglycan with the sarcolemma, and eliminates the morphological markers of limb-girdle muscular dystrophy. In another aspect, the invention relates to a method for determining a specific defective sarcoglycan species in the tissue of a patient. The method involves culture of muscle cells obtained from the patient, and the independent introduction of expression vectors encoding each of the sarcoglycan species, alpha, beta, gamma, and delta, into the cultured cells with subsequent assaying for restoration of the dystrophin-glycoprotein complex. In another aspect, the invention relates to a mouse, and cells derived therefrom, homozygous for a disrupted alpha-sarcoglycan gene. The disruption prevents the synthesis of functional alpha-sarcoglycan in cells of the mouse and results in the mutant mouse having no detectable sarcospan, beta-, gamma-, delta-sarcoglycan, and reduced alpha-dystroglycan in the sarcolemma of skeletal and cardiac muscles, and a reduction of dystrophin in skeletal muscle, when compared to tissue of a mouse lacking a disrupted alpha-sarcoglycan gene. In another aspect, the invention relates to methods for screening for therapeutic agents useful in the treatment of sarcoglycan-deficient limb-girdle muscular dystrophy. The methods involve administering a candidate therapeutic agent to a mouse, or cells derived therefrom, and assaying for therapeutic effects on the mouse or cells, with the determination of therapeutic effects being a reduction or reversal in disease progression, or a restoration of the dystroglycan complex.

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