TY - JOUR
T1 - Pilot trial of phenylbutyrate in spinal muscular atrophy
AU - Mercuri, Eugenio
AU - Bertini, Enrico
AU - Messina, Sonia
AU - Pelliccioni, Marco
AU - D'Amico, Adele
AU - Colitto, Francesca
AU - Mirabella, Massimiliano
AU - Tiziano, Francesco D.
AU - Vitali, Tiziana
AU - Angelozzi, Carla
AU - Kinali, Maria
AU - Main, Marion
AU - Brahe, Christina
PY - 2004/2
Y1 - 2004/2
N2 - 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
AB - 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
KW - Forced vital capacity
KW - Phenylbutyrate
KW - Spinal muscular atrophy
UR - http://www.scopus.com/inward/record.url?scp=9144269242&partnerID=8YFLogxK
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U2 - 10.1016/j.nmd.2003.11.006
DO - 10.1016/j.nmd.2003.11.006
M3 - Article
C2 - 14733959
AN - SCOPUS:9144269242
VL - 14
SP - 130
EP - 135
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
SN - 0960-8966
IS - 2
ER -