{"id":5404,"date":"2025-12-27T16:26:26","date_gmt":"2025-12-27T13:26:26","guid":{"rendered":"https:\/\/dmdwarrior.com\/?p=5404"},"modified":"2025-12-27T17:01:50","modified_gmt":"2025-12-27T14:01:50","slug":"one-time-gene-therapies-or-exon-skipping-therapies-which-may-be-better-for-duchenne-muscular-dystrophy-dmd-today","status":"publish","type":"post","link":"https:\/\/dmdwarrior.com\/zh\/one-time-gene-therapies-or-exon-skipping-therapies-which-may-be-better-for-duchenne-muscular-dystrophy-dmd-today\/","title":{"rendered":"\u2018\u4e00\u6b21\u6027\u57fa\u56e0\u7597\u6cd5\u8fd8\u662f\u5916\u663e\u5b50\u8df3\u8dc3\u7597\u6cd5\uff1a\u54ea\u79cd\u66f4\u9002\u5408\u5f53\u4eca\u7684\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u60a3\u8005\uff1f"},"content":{"rendered":"<p class=\"wp-block-paragraph\">\u5916\u663e\u5b50\u8df3\u8dc3\u662f\u6cbb\u7597\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\uff08DMD\uff09\u7684\u4e3b\u8981\u6cbb\u7597\u65b9\u6cd5\u4e4b\u4e00\u3002DMD\u662f\u4e00\u79cd\u8fdb\u884c\u6027\u808c\u8089\u840e\u7f29\u75be\u75c5\uff0c\u7531DMD\u57fa\u56e0\u7684\u81f4\u75c5\u53d8\u5f02\u5f15\u8d77\uff0c\u8fd9\u4e9b\u53d8\u5f02\u901a\u5e38\u4f1a\u7834\u574f\u7ffb\u8bd1\u9605\u8bfb\u6846\u3002\u8be5\u65b9\u6cd5\u65e8\u5728\u8c03\u8282DMD\u524d\u4f53mRNA\u7684\u526a\u63a5\uff0c\u4ece\u800c\u91cd\u5851\u8f6c\u5f55\u672c\uff0c\u5e76\u751f\u6210\u4e00\u79cd\u5185\u90e8\u7f3a\u5931\u4f46\u90e8\u5206\u529f\u80fd\u6b63\u5e38\u7684\u51c6\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u3002 <strong>\u4e86\u89e3\u66f4\u591a<\/strong>: <a href=\"https:\/\/dmdwarrior.com\/zh\/what-is-exon-skipping-and-how-does-it-work\/\" target=\"_blank\" data-type=\"post\" data-id=\"1445\" rel=\"noreferrer noopener\">\u4ec0\u4e48\u662f\u5916\u663e\u5b50\u8df3\u8dc3\uff1f<\/a><\/p>\n\n\n\n<div class=\"wp-block-rank-math-toc-block\" id=\"rank-math-toc\"><h2>\u76ee\u5f55<\/h2><nav><ul><li><a href=\"#fda-approved-exon-skipping-therapies-clinical-efficacy-is-quite-limited\">FDA \u83b7\u6279\u7684\u5916\u663e\u5b50\u8df3\u8dc3\u7597\u6cd5\u7684\u4e34\u5e8a\u7597\u6548\u975e\u5e38\u6709\u9650\u3002<\/a><\/li><li><a href=\"#in-individuals-affected-by-dmd-initiating-exon-skipping-therapies-early-increases-their-effectiveness\">\u5bf9\u4e8e\u60a3\u6709\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7 (DMD) \u7684\u60a3\u8005\uff0c\u65e9\u671f\u542f\u52a8\u5916\u663e\u5b50\u8df3\u8dc3\u7597\u6cd5\u53ef\u63d0\u9ad8\u5176\u7597\u6548\u3002<\/a><\/li><li><a href=\"#fda-approved-dmd-therapies-have-limited-effectiveness-and-are-very-expensive\">FDA \u6279\u51c6\u7684 DMD \u7597\u6cd5\u7597\u6548\u6709\u9650\u4e14\u4ef7\u683c\u6602\u8d35\u3002<\/a><\/li><li><a href=\"#what-is-the-difference-between-pm-os-and-ppm-os\">\u9879\u76ee\u7ba1\u7406\u529e\u516c\u5ba4 (PMO) \u548c\u9879\u76ee\u89c4\u5212\u7ba1\u7406\u529e\u516c\u5ba4 (PPMO) \u6709\u4ec0\u4e48\u533a\u522b\uff1f<\/a><\/li><li><a href=\"#what-is-an-mdx-mouse-and-what-are-its-features\">\u4ec0\u4e48\u662fmdx\u5c0f\u9f20\uff1f\u5b83\u6709\u54ea\u4e9b\u7279\u70b9\uff1f<\/a><\/li><li><a href=\"#efficacy-of-dystrophin-restoration-therapies\">\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u4fee\u590d\u7597\u6cd5\u7684\u7597\u6548<\/a><ul><li><a href=\"#the-total-amount-of-dystrophin-restored\">\u6062\u590d\u7684\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u603b\u91cf\u3002.<\/a><\/li><li><a href=\"#the-quality-of-dystrophin-restored\">\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u7684\u8d28\u91cf\u6062\u590d\u4e86\u3002.<\/a><\/li><li><a href=\"#correct-localization-of-dystrophin-at-the-sarcolemma\">\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u5728\u808c\u819c\u4e0a\u7684\u6b63\u786e\u5b9a\u4f4d\u3002.<\/a><\/li><li><a href=\"#optimal-timing-for-initiation-of-treatment\">\u5f00\u59cb\u6cbb\u7597\u7684\u6700\u4f73\u65f6\u673a\u3002.<\/a><\/li><\/ul><\/li><li><a href=\"#exon-skipping-therapies-may-also-be-implemented-as-part-of-a-combination-therapy\">\u5916\u663e\u5b50\u8df3\u8dc3\u7597\u6cd5\u4e5f\u53ef\u4f5c\u4e3a\u8054\u5408\u7597\u6cd5\u7684\u4e00\u90e8\u5206\u5b9e\u65bd\u3002<\/a><\/li><\/ul><\/nav><\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"fda-approved-exon-skipping-therapies-clinical-efficacy-is-quite-limited\">FDA \u83b7\u6279\u7684\u5916\u663e\u5b50\u8df3\u8dc3\u7597\u6cd5\u7684\u4e34\u5e8a\u7597\u6548\u975e\u5e38\u6709\u9650\u3002<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u8be5\u7814\u7a76\u63d0\u5230\u4e86\u56db\u79cd\u7ecf FDA \u6279\u51c6\u7684\u5916\u663e\u5b50\u8df3\u8dc3\u7597\u6cd5\uff0c\u5e76\u660e\u786e\u6307\u51fa\u5b83\u4eec\u7684\u4e34\u5e8a\u7597\u6548\u76f8\u5f53\u6709\u9650\u3002.<\/strong> \u4e3a\u4e86\u7814\u7a76\u6cbb\u7597\u65f6\u673a\u5982\u4f55\u5f71\u54cd\u5916\u663e\u5b50\u8df3\u8dc3\u7684\u7ed3\u679c\uff0c\u8fd9\u9879\u79d1\u5b66\u7814\u7a76\u6d89\u53ca\u5411\u7f3a\u4e4f\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u7684 mdx \u5c0f\u9f20\u6ce8\u5c04\u80bd-\u78f7\u9170\u4e8c\u80fa\u5417\u5549\u4ee3\u5be1\u6838\u82f7\u9178 (PPMO) \u5916\u663e\u5b50\u8df3\u8dc3\u7f00\u5408\u7269\uff0c\u4ece\u6210\u5e74\uff0812 \u5468\uff09\u6216\u8001\u5e74\uff0875 \u5468\uff09\u9636\u6bb5\u5f00\u59cb\uff0c\u5e76\u6536\u96c6\u80eb\u524d\u808c\u7ec4\u7ec7\u8fdb\u884c\u751f\u5316\u548c\u8f6c\u5f55\u7ec4\u5206\u6790\u3002.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"in-individuals-affected-by-dmd-initiating-exon-skipping-therapies-early-increases-their-effectiveness\">\u5bf9\u4e8e\u60a3\u6709\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7 (DMD) \u7684\u60a3\u8005\uff0c\u65e9\u671f\u542f\u52a8\u5916\u663e\u5b50\u8df3\u8dc3\u7597\u6cd5\u53ef\u63d0\u9ad8\u5176\u7597\u6548\u3002<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u6210\u5e74\u5c0f\u9f20\u548c\u8001\u5e74PPMO\u6cbb\u7597\u7684mdx\u5c0f\u9f20\u4e2d\uff0cDmd\u57fa\u56e023\u53f7\u5916\u663e\u5b50\u8df3\u8dc3\u7684\u5e73\u5747\u503c\u4e3a79%\uff0c\u800c\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u7684\u6062\u590d\u503c\u5206\u522b\u4e3a35%\u548c8%\u3002\u7ec4\u7ec7\u75c5\u7406\u5b66\u6539\u5584\u4ec5\u5728\u6210\u5e74\u6cbb\u7597\u5c0f\u9f20\u4e2d\u89c2\u5bdf\u5230\u3002.<\/strong> \u5728\u6210\u5e74 mdx \u5c0f\u9f20\u4e2d\uff0cPPMO \u6cbb\u7597\u8bf1\u5bfc\u4e86\u8f6c\u5f55\u7ec4\u5411\u91ce\u751f\u578b\u7279\u5f81\u7684\u5e7f\u6cdb\u8f6c\u53d8\uff0c\u800c\u5bf9\u8001\u5e74\u5c0f\u9f20\u7684\u6cbb\u7597\u5219\u4ec5\u5bfc\u81f4\u57fa\u56e0\u8868\u8fbe\u7684\u5fae\u5c0f\u53d8\u5316\uff0c\u8fd9\u8868\u660e\u5c3d\u7ba1\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u6c34\u5e73\u6709\u6240\u6062\u590d\uff0c\u4f46\u540e\u671f\u5e72\u9884\u5e76\u4e0d\u80fd\u6709\u6548\u9006\u8f6c\u75be\u75c5\u76f8\u5173\u7684\u75c5\u7406\u6539\u53d8\u3002\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u8f6c\u5f55\u5931\u8861\u4ec5\u5728\u6210\u5e74 mdx \u5c0f\u9f20\u4e2d\u5f97\u5230\u7ea0\u6b63\u3002\u6291\u5236\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u7684 microRNA miR-31-5p \u7684\u8868\u8fbe\u589e\u52a0\uff08\u5728\u8001\u5e74 mdx \u5c0f\u9f20\u808c\u8089\u4e2d\u4e0a\u8c03\u66f4\u4e3a\u663e\u8457\uff09\u63d0\u4f9b\u4e86\u4e00\u79cd\u6f5c\u5728\u7684\u673a\u5236\u89e3\u91ca\u3002. <strong>\u603b\u4e4b\uff0c\u5728\u6210\u5e74\u808c\u8425\u517b\u4e0d\u826f\u75c7\u60a3\u8005\u4e2d\u542f\u52a8 PPMO \u4ecb\u5bfc\u7684\u5916\u663e\u5b50\u8df3\u8dc3\u6bd4\u5728\u8001\u5e74\u808c\u8425\u517b\u4e0d\u826f\u75c7\u60a3\u8005\u4e2d\u542f\u52a8\u7684\u5916\u663e\u5b50\u8df3\u8dc3\u8981\u6709\u6548\u5f97\u591a\uff0c\u8fd9\u652f\u6301\u5bf9 DMD \u60a3\u8005\u8fdb\u884c\u65e9\u671f\u6cbb\u7597\u5e72\u9884\u3002.<\/strong> &gt;&gt; <strong>\u4e86\u89e3\u66f4\u591a<\/strong>: <a href=\"https:\/\/dmdwarrior.com\/wp-content\/uploads\/2025\/04\/Duchenne-Population-Potentially-Amenable-to-Exon-Skipping-01.04.25.pdf\" target=\"_blank\" rel=\"noreferrer noopener\">\u9002\u5408\u5916\u663e\u5b50\u8df3\u8dc3\u7684\u6f5c\u5728\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u60a3\u8005\u7fa4\u4f53<\/a><\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"fda-approved-dmd-therapies-have-limited-effectiveness-and-are-very-expensive\">FDA \u6279\u51c6\u7684 DMD \u7597\u6cd5\u7597\u6548\u6709\u9650\u4e14\u4ef7\u683c\u6602\u8d35\u3002<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u8fd1\u5e74\u6765\uff0c\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\uff08DMD\uff09\u7684\u5b9e\u9a8c\u6cbb\u7597\u9886\u57df\u53d6\u5f97\u4e86\u663e\u8457\u8fdb\u5c55\u3002\u591a\u79cd\u7b56\u7565\u5df2\u88ab\u7528\u4e8e\u6062\u590d\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u7684\u8868\u8fbe\u3002\u4f8b\u5982\uff0c\u53cd\u4e49\u5be1\u6838\u82f7\u9178\uff08ASO\uff09\u4ecb\u5bfc\u7684\u5916\u663e\u5b50\u8df3\u8dc3\u53ef\u7528\u4e8e\u8c03\u8282\u53ef\u53d8\u526a\u63a5\uff0c\u4ece\u800c\u6062\u590d\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u7684\u7ffb\u8bd1\u9605\u8bfb\u6846\u3002. <strong>\u56db\u79cd\u53cd\u4e49\u5be1\u6838\u82f7\u9178\u836f\u7269\uff08Eteplirsen\u3001Viltolarsen\u3001Golodiresen \u548c Casimersen\uff09\u5df2\u83b7\u5f97\u7f8e\u56fd\u52a0\u901f\u6279\u51c6\uff0c\u7528\u4e8e\u6cbb\u7597\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\uff08DMD\uff09\u7537\u5b69\u3002\u5c3d\u7ba1\u8fd9\u5bf9 DMD \u7814\u7a76\u548c\u60a3\u8005\u7fa4\u4f53\u6765\u8bf4\u662f\u4e00\u9879\u91cd\u5927\u6210\u5c31\uff0c\u4f46\u8fd9\u4e9b\u5316\u5408\u7269\u6240\u6062\u590d\u7684\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u6c34\u5e73\u5fae\u4e4e\u5176\u5fae\uff0c\u5176\u4e34\u5e8a\u7597\u6548\u4e5f\u5c1a\u5b58\u4e89\u8bae\u3002.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u540c\u6837\uff0c\u5c3d\u7ba1\u9996\u4e2a\u7528\u4e8e\u6cbb\u7597\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\uff08DMD\uff09\u7684\u57fa\u56e0\u7597\u6cd5\uff08Elevidys\uff09\u5728\u4e09\u671f\u4e34\u5e8a\u8bd5\u9a8c\u4e2d\u672a\u80fd\u8fbe\u5230\u4e34\u5e8a\u7ec8\u70b9\uff0c\u4f46\u7f8e\u56fd\u98df\u54c1\u836f\u54c1\u76d1\u7763\u7ba1\u7406\u5c40\uff08FDA\uff09\u4ecd\u4e8e2023\u5e74\u6279\u51c6\u4e86\u8be5\u7597\u6cd5\u3002\u6b64\u5916\uff0c\u7531\u4e8e\u591a\u540d\u60a3\u8005\u6b7b\u4ea1\uff0cElevidys\uff08\u4ee5\u53ca\u4e00\u822c\u9ad8\u5242\u91cf\u817a\u76f8\u5173\u75c5\u6bd2\u8f7d\u4f53\u57fa\u56e0\u7597\u6cd5\uff09\u7684\u5b89\u5168\u6027\u4e5f\u53d7\u5230\u4e86\u8d28\u7591\u3002 <strong>\u53d1\u73b0\u66f4\u591a\uff1a<\/strong> <a href=\"https:\/\/dmdwarrior.com\/zh\/why-elevidys-was-not-approved-by-the-european-medicines-agency-ema\/\" target=\"_blank\" rel=\"noreferrer noopener\">\u4e3a\u4ec0\u4e48Elevidys\u672a\u83b7\u6b27\u6d32\u836f\u54c1\u7ba1\u7406\u5c40\uff08EMA\uff09\u6279\u51c6\uff1f<\/a><\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"what-is-the-difference-between-pm-os-and-ppm-os\">\u9879\u76ee\u7ba1\u7406\u529e\u516c\u5ba4 (PMO) \u548c\u9879\u76ee\u89c4\u5212\u7ba1\u7406\u529e\u516c\u5ba4 (PPMO) \u6709\u4ec0\u4e48\u533a\u522b\uff1f<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u76ee\u524d\u7528\u4e8e\u5916\u663e\u5b50\u8df3\u8dc3\u7684\u53cd\u4e49\u5be1\u6838\u82f7\u9178\uff08ASO\uff09\u5747\u4e3a\u78f7\u9170\u4e8c\u80fa\u5417\u5549\u4ee3\u5be1\u6838\u82f7\u9178\uff08PMO\uff09\u3002\u8fd9\u79cd\u5316\u5b66\u7ed3\u6784\u5728\u81ea\u7136\u754c\u4e2d\u5e76\u4e0d\u5b58\u5728\uff0c\u4e14\u88ab\u5e7f\u6cdb\u8ba4\u4e3a\u662f\u5b89\u5168\u7684\u3002\u7136\u800c\uff0cPMO\u5411\u9aa8\u9abc\u808c\uff08\u5c24\u5176\u662f\u5fc3\u808c\uff09\u7684\u9012\u9001\u975e\u5e38\u6709\u9650\uff0c\u8fd9\u4fc3\u4f7f\u4eba\u4eec\u5bfb\u627e\u80fd\u591f\u589e\u5f3a\u5176\u6d3b\u6027\u7684\u9012\u9001\u8f85\u52a9\u57fa\u56e2\u3002\u79d1\u5b66\u5bb6\u4eec\u5df2\u5e7f\u6cdb\u63a2\u7d22\u4e86\u80bd\u5076\u8054PMO\uff08PPMO\uff09\u5728\u6b64\u7c7b\u5e94\u7528\u4e2d\u7684\u53ef\u80fd\u6027\u3002. <strong>PPMO \u6bd4\u672a\u7ed3\u5408\u7684 PMO \u6548\u529b\u5f3a\u5f97\u591a\uff0c\u5e76\u4e14\u5728\u5fc3\u810f\u7ec4\u7ec7\u4e2d\u8868\u73b0\u51fa\u5916\u663e\u5b50\u8df3\u8dc3\u6d3b\u6027\u3002.<\/strong> \u76ee\u524d\uff0cPepGen Ltd \u548c Entrada Therapeutics \u6b63\u5728\u5bf9 PPMO \u8fdb\u884c\u5546\u4e1a\u5316\u5f00\u53d1\u3002\u540c\u6837\uff0cAvidity Biosciences \u548c Dyne Therapeutics \u6b63\u5728\u5f00\u53d1\u7528\u4e8e\u6cbb\u7597 DMD \u7684 PMO \u6297\u4f53\u548c PMO-FAb \u7247\u6bb5\u7597\u6cd5\u3002 <strong>\u9605\u8bfb\u66f4\u591a<\/strong>:&nbsp;<a href=\"https:\/\/dmdwarrior.com\/zh\/next-generation-exon-skipping-therapies-for-duchenne-muscular-dystrophy\/\" target=\"_blank\" rel=\"noreferrer noopener\">\u4e0b\u4e00\u4ee3\u5916\u663e\u5b50\u8df3\u8dc3\u7597\u6cd5<\/a><\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"what-is-an-mdx-mouse-and-what-are-its-features\">\u4ec0\u4e48\u662fmdx\u5c0f\u9f20\uff1f\u5b83\u6709\u54ea\u4e9b\u7279\u70b9\uff1f<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>mdx \u5c0f\u9f20\u662f DMD \u6700\u5e38\u7528\u7684\u5c0f\u9f20\u6a21\u578b\uff0c\u5176 Dmd \u5916\u663e\u5b50 23 \u4e2d\u5b58\u5728\u63d0\u524d\u7ec8\u6b62\u5bc6\u7801\u5b50\uff0c\u8be5\u5bc6\u7801\u5b50\u8df3\u8dc3\u4f1a\u5bfc\u81f4 X \u8fde\u9501\u808c\u8425\u517b\u4e0d\u826f\u75c7\uff0c\u5e76\u8868\u73b0\u51fa DMD \u75c5\u7406\u7684\u67d0\u4e9b\u65b9\u9762\u3002.<\/strong> \u5728\u8fd9\u9879\u7814\u7a76\u4e2d\uff0c\u79d1\u5b66\u5bb6\u4eec\u6b64\u524d\u5df2\u5bf9\u8fd9\u53ea\u5c0f\u9f20\u8fdb\u884c\u4e86\u5404\u79cd\u7ec4\u5b66\u5206\u6790\uff0c\u91cd\u70b9\u7814\u7a76\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u6062\u590d\u7597\u6cd5\u7684\u6548\u679c\uff0c\u5305\u62ec\u57fa\u56e0\u8868\u8fbe\/microRNA \u5fae\u9635\u5217\u3001\u5c0f RNA-Seq \u548c\u57fa\u4e8e\u9ad8\u5206\u8fa8\u7387\u8d28\u8c31\u7684\u86cb\u767d\u8d28\u7ec4\u5b66\u3002.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"efficacy-of-dystrophin-restoration-therapies\">\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u4fee\u590d\u7597\u6cd5\u7684\u7597\u6548<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"the-total-amount-of-dystrophin-restored\">\u6062\u590d\u7684\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u603b\u91cf\u3002.<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">\u4eba\u4eec\u666e\u904d\u8ba4\u4e3a\uff0c\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u6062\u590d\u5f97\u8d8a\u591a\u8d8a\u597d\u3002\u591a\u9879\u8bc1\u636e\u8868\u660e\uff0c\u7ea610%\u7684\u5065\u5eb7\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u6c34\u5e73\u662f\u83b7\u5f97\u6cbb\u7597\u76ca\u5904\u7684\u5408\u7406\u9608\u503c\u3002.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"the-quality-of-dystrophin-restored\">\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u7684\u8d28\u91cf\u6062\u590d\u4e86\u3002.<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">\u5916\u663e\u5b50\u8df3\u8dc3\u526a\u63a5\u6821\u6b63\u548c\u5fae\u578b\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u57fa\u56e0\u7597\u6cd5\u90fd\u4f9d\u8d56\u4e8e\u4ea7\u751f\u5185\u90e8\u7f3a\u5931\u7684\u51c6\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\uff0c\u8fd9\u4e9b\u86cb\u767d\u7c7b\u4f3c\u4e8e\u67d0\u4e9b\u8d1d\u514b\u5c14\u808c\u8425\u517b\u4e0d\u826f\u75c7\u60a3\u8005\u4f53\u5185\u53d1\u73b0\u7684\u86cb\u767d\uff0c\u5e76\u4e14\u4e0e\u8f7b\u5fae\u7684\u75c5\u7406\u6709\u5173\u3002. <strong>\u7136\u800c\uff0c\u8fd9\u7c7b\u51c6\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u4e0d\u592a\u53ef\u80fd\u5b8c\u5168\u5f25\u8865\u5168\u957f\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u7684\u7f3a\u5931\u3002\u4eba\u4eec\u666e\u904d\u8ba4\u4e3a\u5168\u957f\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u662f\u7406\u60f3\u7684\u9009\u62e9\uff0c\u4f46\u9274\u4e8e\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u5f00\u653e\u9605\u8bfb\u6846\uff08ORF\uff09\u7684\u5927\u5c0f\uff08\u7ea611 kb\uff09\u8d85\u8fc7\u4e86\u817a\u76f8\u5173\u75c5\u6bd2\uff08AAV\uff09\u8f7d\u4f53\u7684\u5305\u88c5\u5bb9\u91cf\uff08\u7ea64.6 kb\uff09\uff0c\u8fd9\u6784\u6210\u4e86\u4e00\u9879\u6311\u6218\u3002.<\/strong> \u5728\u63a5\u53d7\u5916\u663e\u5b50\u8df3\u8dc3\u7597\u6cd5\u6cbb\u7597\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\uff08DMD\uff09\u7b2c2\u5916\u663e\u5b50\u91cd\u590d\u7684\u4eba\u4f53\u4e34\u5e8a\u8bd5\u9a8c\u53c2\u4e0e\u8005\u4e2d\uff0c\u5df2\u8bc1\u5b9e\u5168\u957f\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u5f97\u4ee5\u6062\u590d\u3002\u6b64\u5916\uff0c\u8fd8\u6709\u591a\u9879\u7814\u7a76\u81f4\u529b\u4e8e\u5f00\u53d1\u5168\u957f\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u9012\u9001\u7b56\u7565\uff0c\u4f8b\u5982\u91c7\u7528\u5206\u88c2\u8f7d\u4f53\u6216\u4f7f\u7528\u5305\u88c5\u5bb9\u91cf\u66f4\u9ad8\u7684\u8f7d\u4f53\u3002.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"correct-localization-of-dystrophin-at-the-sarcolemma\">\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u5728\u808c\u819c\u4e0a\u7684\u6b63\u786e\u5b9a\u4f4d\u3002.<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">\u672c\u7814\u7a76\u8868\u660e\uff0c\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u5728\u808c\u7ea4\u7ef4\u5185\u808c\u819c\u4e0a\u7684\u5747\u5300\u5206\u5e03\u662f\u6cbb\u7597\u6210\u529f\u7684\u91cd\u8981\u51b3\u5b9a\u56e0\u7d20\u3002\u503c\u5f97\u6ce8\u610f\u7684\u662f\uff0c\u4f7f\u7528PPMO\u7f00\u5408\u7269\u8fdb\u884c\u5916\u663e\u5b50\u8df3\u8dc3\u6cbb\u7597\u53ef\u8bf1\u5bfc\u808c\u819c\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u5747\u5300\u8986\u76d6\uff08\u5373\u4f7f\u5728\u4f4e\u5242\u91cf\u4e0b\uff09\uff0c\u800cCRISPR-Cas9\u4ecb\u5bfc\u7684\u5916\u663e\u5b50\u7f3a\u5931\u5219\u5bfc\u81f4\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u5206\u5e03\u5448\u6591\u7247\u72b6\u3002\u8fd9\u662f\u4e00\u4e2a\u91cd\u8981\u7684\u53d1\u73b0\uff0c\u56e0\u4e3a\u808c\u819c\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u8986\u76d6\u4e0d\u5b8c\u5168\u53ef\u80fd\u4e0d\u8db3\u4ee5\u963b\u6b62\u808c\u7ea4\u7ef4\u66f4\u65b0\u548c\u7ea0\u6b63\u75be\u75c5\u75c5\u7406\u3002.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"optimal-timing-for-initiation-of-treatment\">\u5f00\u59cb\u6cbb\u7597\u7684\u6700\u4f73\u65f6\u673a\u3002.<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">\u65e9\u671f\u5f00\u59cb\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u6062\u590d\u7597\u6cd5\u53ef\u80fd\u6709\u52a9\u4e8e\u9884\u9632\u6216\u5ef6\u7f13\u808c\u8089\u7684\u75c5\u7406\u6027\u9000\u5316\u3002. <strong>\u7136\u800c\uff0c\u5bf9\u4e8e\u50cf\u5fae\u578b\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u57fa\u56e0\u6cbb\u7597\u6216 CRISPR-Cas9 \u4ecb\u5bfc\u7684\u57fa\u56e0\u6821\u6b63\u8fd9\u6837\u7684\u2018\u4e00\u6b21\u6027\u2019\u7597\u6cd5\uff0c\u7531\u4e8e\u751f\u957f\u548c\u518d\u751f\uff0c\u672a\u6821\u6b63\u7684\u808c\u6838\u4f1a\u6dfb\u52a0\u5230\u808c\u7ea4\u7ef4\u4e2d\uff0c\u56e0\u6b64\u6821\u6b63\u540e\u7684\u7ec6\u80de\u6838\u6570\u91cf\u4f1a\u9010\u6e10\u88ab\u7a00\u91ca\u3002.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u5728\u8fd9\u9879\u7814\u7a76\u4e2d\uff0c\u79d1\u5b66\u5bb6\u4eec\u8bc4\u4f30\u4e86\u5728\u6210\u5e74\u671f\u548c\u8001\u5e74\u671f\u5f00\u59cb\u6cbb\u7597\u65f6\uff0c\u4f7f\u7528 PPMO \u53cd\u4e49\u5be1\u6838\u82f7\u9178\u7f00\u5408\u7269\u8fdb\u884c\u5916\u663e\u5b50\u8df3\u8dc3\u7684\u7597\u6548\u3002. <strong>\u8fd9\u4e9b\u6570\u636e\u652f\u6301\u4e86\u65e9\u671f\u6cbb\u7597\u53ef\u80fd\u5bf9 DMD \u6cbb\u7597\u6709\u76ca\u7684\u89c2\u70b9\u3002.<\/strong><\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"exon-skipping-therapies-may-also-be-implemented-as-part-of-a-combination-therapy\">\u5916\u663e\u5b50\u8df3\u8dc3\u7597\u6cd5\u4e5f\u53ef\u4f5c\u4e3a\u8054\u5408\u7597\u6cd5\u7684\u4e00\u90e8\u5206\u5b9e\u65bd\u3002<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u5bf9\u4e8e\u60a3\u6709 DMD \u7684\u7537\u5b69\uff0c\u53ef\u4ee5\u5f00\u59cb\u8fdb\u884c\u5916\u663e\u5b50\u8df3\u8dc3\u7597\u6cd5\uff0c\u76ee\u7684\u662f\u7ef4\u6301\u4ed6\u4eec\u7684\u808c\u8089\u529f\u80fd\uff0c\u76f4\u5230\u57fa\u56e0\u7597\u6cd5\u6cbb\u7597\u5b89\u5168\u4e14\u5408\u9002\u4e3a\u6b62\u3002.<\/strong> \u4e8b\u5b9e\u4e0a\uff0c\u4e34\u5e8a\u524d\u8bc1\u636e\u652f\u6301PMO\u4ecb\u5bfc\u7684\u5916\u663e\u5b50\u8df3\u8dc3\u7597\u6cd5\u4e0eAAV-U7\u4ecb\u5bfc\u7684\u5916\u663e\u5b50\u8df3\u8dc3\u7597\u6cd5\u6216AAV-\u5fae\u578b\u808c\u8425\u517b\u4e0d\u826f\u86cb\u767d\u57fa\u56e0\u7597\u6cd5\u8054\u5408\u5e94\u7528\u5177\u6709\u534f\u540c\u6548\u5e94\u3002\u672c\u7814\u7a76\u8fdb\u4e00\u6b65\u4e30\u5bcc\u4e86\u5173\u4e8eDMD\u60a3\u8005\u4f55\u65f6\u5f00\u59cb\u5916\u663e\u5b50\u8df3\u8dc3\u7597\u6cd5\u7684\u8ba8\u8bba\u3002. <strong>\u672c\u6587\u63d0\u4f9b\u7684\u4e34\u5e8a\u524d\u6570\u636e\u8bc1\u636e\u652f\u6301\u5728\u51fa\u73b0\u665a\u671f\u7ec4\u7ec7\u75c5\u7406\u5b66\u4e4b\u524d\uff0c\u5c3d\u65e9\u5f00\u59cb\u5916\u663e\u5b50\u8df3\u8dc3\u7597\u6cd5\u7684\u89c2\u70b9\u3002.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u7ee7\u7eed\u9605\u8bfb\uff1a<\/strong> <a href=\"https:\/\/www.biorxiv.org\/content\/10.64898\/2025.12.23.696144v1.full.pdf\" target=\"_blank\" rel=\"noreferrer noopener\">\u65f6\u673a\u5f88\u91cd\u8981\uff1a\u5728\u675c\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u75c7\u5c0f\u9f20\u6a21\u578b\u4e2d\uff0c\u5916\u663e\u5b50\u8df3\u8dc3\u7597\u6cd5\u5728\u65e9\u671f\u542f\u52a8\u65f6\u6548\u679c\u6700\u4f73\u3002<\/a><\/p>","protected":false},"excerpt":{"rendered":"<p>Exon skipping is a leading therapeutic approach for Duchenne muscular dystrophy (DMD), aprogressive muscle wasting disorder caused by pathogenic variants in the DMD gene that typically disrupt the translation reading frame. This approach aims to modulate DMD pre-mRNA splicing to reframe the transcript and generate an internally deleted but partially functional quasi-dystrophin protein. >> Learn [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":5418,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[282],"tags":[473,119,77,178,61,472,268,471],"class_list":["post-5404","post","type-post","status-publish","format-standard","has-post-thumbnail","category-editorials","tag-casimersen","tag-eteplirsen","tag-exon-skipping","tag-exon-skipping-therapies","tag-gene-therapy","tag-golodiresen","tag-microrna","tag-viltolarsen"],"_links":{"self":[{"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/posts\/5404","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/comments?post=5404"}],"version-history":[{"count":0,"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/posts\/5404\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/media\/5418"}],"wp:attachment":[{"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/media?parent=5404"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/categories?post=5404"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dmdwarrior.com\/zh\/wp-json\/wp\/v2\/tags?post=5404"}],"curies":[{"name":"\u53ef\u6e7f\u6027\u7c89\u5242","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}