{"id":1228,"date":"2018-12-31T14:13:36","date_gmt":"2018-12-31T14:13:36","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1228"},"modified":"2026-02-24T00:50:39","modified_gmt":"2026-02-24T00:50:39","slug":"longitudinal-evaluation-of-smn-levels-as-biomarker-for-spinal-muscular-atrophy-molecular-results-of-a-phase-iib-double-blind-study-of-salbutamol","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/31\/longitudinal-evaluation-of-smn-levels-as-biomarker-for-spinal-muscular-atrophy-molecular-results-of-a-phase-iib-double-blind-study-of-salbutamol\/","title":{"rendered":"Longitudinal evaluation of SMN levels as biomarker for Spinal Muscular Atrophy Molecular: results of a phase-IIb double-blind study of salbutamol (Contributed by Dr. F. Danilo Tiziano)"},"content":{"rendered":"<p>Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder, due to the loss of the SMN1 gene. We have performed a 1-year placebo-controlled study with salbutamol, a compound commonly used for asthma, in SMA adult patients. Objectives of the study were the usefulness of SMN dosage in blood, and the safety of oral salbutamol. Beside the molecular studies, we have also explored the clinical effect of the compound. SMN dosage in peripheral blood is reliable and may be used in clinical trials with systemic compounds modifying SMN2 expression. The exploratory analysis of motor function showed an improvement in most patients. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2018\/12\/27\/jmedgenet-2018-105482\">https:\/\/jmg.bmj.com\/content\/early\/2018\/12\/27\/jmedgenet-2018-105482<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder, due to the loss of the SMN1 gene. We have performed a 1-year placebo-controlled study with salbutamol, a compound commonly used for asthma, in SMA adult patients. Objectives of the study were the usefulness of SMN dosage in blood, and the safety of oral salbutamol. Beside [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/31\/longitudinal-evaluation-of-smn-levels-as-biomarker-for-spinal-muscular-atrophy-molecular-results-of-a-phase-iib-double-blind-study-of-salbutamol\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1228","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Longitudinal evaluation of SMN levels as biomarker for Spinal Muscular Atrophy Molecular: results of a phase-IIb double-blind study of salbutamol (Contributed by Dr. F. Danilo Tiziano) - 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\/2018\/12\/31\/longitudinal-evaluation-of-smn-levels-as-biomarker-for-spinal-muscular-atrophy-molecular-results-of-a-phase-iib-double-blind-study-of-salbutamol\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Longitudinal evaluation of SMN levels as biomarker for Spinal Muscular Atrophy Molecular: results of a phase-IIb double-blind study of salbutamol (Contributed by Dr. F. Danilo Tiziano) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder, due to the loss of the SMN1 gene. We have performed a 1-year placebo-controlled study with salbutamol, a compound commonly used for asthma, in SMA adult patients. Objectives of the study were the usefulness of SMN dosage in blood, and the safety of oral salbutamol. 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