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Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy
E Mercuri1, E Bertini, S Messina
1Department of Paediatric Neurology, Catholic University, Largo Gemelli, 00168 Rome, Italy. e.mercuri@imperial.ac.uk
Insights
Phenylbutyrate (PB) did not show efficacy in improving motor function for spinal muscular atrophy patients in a 13-week trial. The study found no significant difference in outcomes between PB and placebo groups.
Area of Science:
- Neurology
- Clinical Trials
- Pharmacology
Background:
- Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder.
- Current treatments for SMA have limitations, necessitating research into novel therapeutic agents.
- Phenylbutyrate (PB) has been investigated for its potential therapeutic effects in various conditions.
Purpose of the Study:
- To evaluate the efficacy of phenylbutyrate (PB) in patients diagnosed with spinal muscular atrophy (SMA).
- To conduct a rigorous assessment using a randomized, double-blind, placebo-controlled trial design.
- To investigate PB's impact on motor function and respiratory capacity in pediatric SMA patients.
Main Methods:
- A randomized, double-blind, placebo-controlled trial was conducted across 10 Italian centers.
- 107 children with SMA received either PB (500 mg/kg/day) or a placebo for 13 weeks.
- Intermittent dosing schedule (7 days on/7 days off) was employed, with assessments at baseline, week 5, and week 13.
Main Results:
- The study enrolled 107 patients aged 30-154 months between January and September 2004.
- Phenylbutyrate was well-tolerated, with minimal adverse events reported.
- No significant difference in the Hammersmith functional motor scale improvement was observed between the PB group (0.60) and the placebo group (0.73; p = 0.70).
- Secondary endpoints, including myometry and forced vital capacity, also showed no significant differences between groups.
Conclusions:
- Phenylbutyrate (PB) demonstrated no significant efficacy in improving motor function or respiratory capacity in SMA patients.
- The specific regimen, schedule, and duration of PB administration in this study were ineffective.
- Further research may be needed to explore alternative dosing strategies or different therapeutic agents for SMA.
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.
