Pilot trial of phenylbutyrate in spinal muscular atrophy

Eugenio Mercuri, Enrico Bertini, Sonia Messina, Marco Pelliccioni, Adele D'Amico, Francesca Colitto, Massimiliano Mirabella, Francesco D. Tiziano, Tiziana Vitali, Carla Angelozzi, Maria Kinali, Marion Main, Christina Brahe

Research output: Contribution to journalArticlepeer-review

Abstract

The aim of this study was to evaluate tolerability and efficacy of phenylbutyrate (PB) in patients with spinal muscular atrophy (SMA). Ten patients with SMA type II confirmed by DNA studies (age range 2.6-12.7 years, mean age 6.01) were started on oral PB (triButyrate®) in powder or tablets. The dosage was 500 mg/kg per day (maximum dose 19 g/d), divided in five doses (every 4 h, skipping one night-dose) using an intermittent schedule (7 days on and 7 days off). Measures of efficacy were the change in motor function from baseline to 3 and 9 weeks, by means of the Hammersmith functional motor scale. In children older than 5 years, muscle strength, assessed by myometry, and forced vital capacity were also measured. We found a significant increase in the scores of the Hammersmith functional scale between the baseline and both 3-weeks (P

Original languageEnglish
Pages (from-to)130-135
Number of pages6
JournalNeuromuscular Disorders
Volume14
Issue number2
DOIs
Publication statusPublished - Feb 2004

Keywords

  • Forced vital capacity
  • Phenylbutyrate
  • Spinal muscular atrophy

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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