{"id":1278,"date":"2019-04-30T13:50:24","date_gmt":"2019-04-30T13:50:24","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1278"},"modified":"2026-02-24T00:40:52","modified_gmt":"2026-02-24T00:40:52","slug":"mutation-specific-fabry-disease-patient-derived-cell-model-to-evaluate-the-amenability-to-chaperone-therapy","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2019\/04\/30\/mutation-specific-fabry-disease-patient-derived-cell-model-to-evaluate-the-amenability-to-chaperone-therapy\/","title":{"rendered":"Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy (Contributed by Dr. rer. nat. Malte Lenders)"},"content":{"rendered":"

Patients with Fabry disease (FD) and amenable mutations can be treated with the chaperone migalastat to restore endogenous \u03b1-galactosidase A (AGAL) activity. Our study demonstrates that repeated AGAL activity measurements in patients\u2019 white blood cells at treatment-na\u00efve baseline and during follow-up is mandatory to assess the in vivo amenability to migalastat. In addition, plasma lyso-globotriaosylceramide (lyso-Gb3) levels seem to be an appropriate tool to measure the biochemical response to migalastat. Patients with very low AGAL activities and increasing lyso-Gb3 levels despite in vitro amenability might not benefit sufficiently from chaperone treatment. (https:\/\/jmg.bmj.com\/content\/early\/2019\/04\/22\/jmedgenet-2019-106005<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Patients with Fabry disease (FD) and amenable mutations can be treated with the chaperone migalastat to restore endogenous \u03b1-galactosidase A (AGAL) activity. Our study demonstrates that repeated AGAL activity measurements in patients\u2019 white blood cells at treatment-na\u00efve baseline and during follow-up is mandatory to assess the in vivo amenability to migalastat. In addition, plasma lyso-globotriaosylceramide […]<\/p>\n

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Malte Lenders) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/04\/30\/mutation-specific-fabry-disease-patient-derived-cell-model-to-evaluate-the-amenability-to-chaperone-therapy\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy (Contributed by Dr. rer. nat. Malte Lenders) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Patients with Fabry disease (FD) and amenable mutations can be treated with the chaperone migalastat to restore endogenous \u03b1-galactosidase A (AGAL) activity. 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