Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy

作者：Eugenio Maria Mercuri, Enrico Bertini, Sonia Messina, Alessandra Solari, Adele D’Amico, Carla Angelozzi, Roberta Battini, Angela Lucia Berardinelli, Patrizia Boffi, Claudio Bruno, CLAUDIO CINI, Francesca Colitto, Maria Kinali, Carlo Minetti, Tiziana Mongini, Lucia Ovidia Morandi, Giovanni Neri, Simona Orcesi, Marika Pane, Marco Pelliccioni, Antonella Pini, Francesco Danilo Tiziano, Marcello Villanova, Giuseppe Vita, Christina Brahe · 发表于：Neurology · 年份：2006 · DOI：10.1212/01.wnl.0000249142.82285.d6 · 被引用次数：172 · 研究领域：Neurogenetic and Muscular Disorders Research、Cerebral Palsy and Movement Disorders、Genetic Neurodegenerative Diseases

OBJECTIVE: To assess the efficacy of phenylbutyrate (PB) in patients with spinal muscular atrophy in a randomized, double-blind, placebo-controlled trial involving 10 Italian centers. METHODS: One hundred seven children were assigned to receive PB (500 mg/kg/day) or matching placebo on an intermittent regimen (7 days on/7 days off) for 13 weeks. The Hammersmith functional motor scale (primary outcome measure), myometry, and forced vital capacity were assessed at baseline and at weeks 5 and 13. RESULTS: Between January and September 2004, 107 patients aged 30 to 154 months were enrolled. PB was well tolerated, with only one child withdrawing because of adverse events. Mean improvement in functional score was 0.60 in the PB arm and 0.73 in placebo arm (p = 0.70). Changes in the secondary endpoints were also similar in the two study arms. CONCLUSIONS: Phenylbutyrate was not effective at the regimen, schedule, and duration used in this study.