Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy.
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.
Mercuri
E
E
Department of Paediatric Neurology, Catholic University, Largo Gemelli, 00168 Rome, Italy. e.mercuri@imperial.ac.uk
Bertini
E
E
Messina
S
S
Solari
A
A
D'Amico
A
A
Angelozzi
C
C
Battini
R
R
Berardinelli
A
A
Boffi
P
P
Bruno
C
C
Cini
C
C
Colitto
F
F
Kinali
M
M
Minetti
C
C
Mongini
T
T
Morandi
L
L
Neri
G
G
Orcesi
S
S
Pane
M
M
Pelliccioni
M
M
Pini
A
A
Tiziano
F D
FD
Villanova
M
M
Vita
G
G
Brahe
C
C
D002648:Child; D002675:Child, Preschool; D004311:Double-Blind Method; D005260:Female; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000188:drug therapy* / Q000453:epidemiology / Q000503:physiopathology; D010654:Phenylbutyrates / Q000627:therapeutic use*; D012189:Retrospective Studies
D010654:Phenylbutyrates; C075773:4-phenylbutyric acid