Pilot trial of phenylbutyrate in spinal muscular atrophy

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

doi:10.1016/j.nmd.2003.11.006

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

Ospedale Pediatrico Bambino Gesu

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	130-135
Number of pages	6
Journal	Neuromuscular Disorders
Volume	14
Issue number	2
DOIs	https://doi.org/10.1016/j.nmd.2003.11.006
Publication status	Published - 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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10.1016/j.nmd.2003.11.006

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Pilot trial of phenylbutyrate in spinal muscular atrophy. / Mercuri, Eugenio; Bertini, Enrico; Messina, Sonia; Pelliccioni, Marco; D'Amico, Adele; Colitto, Francesca; Mirabella, Massimiliano; Tiziano, Francesco D.; Vitali, Tiziana; Angelozzi, Carla; Kinali, Maria; Main, Marion; Brahe, Christina.

In: Neuromuscular Disorders, Vol. 14, No. 2, 02.2004, p. 130-135.

Research output: Contribution to journal › Article › peer-review

Mercuri, Eugenio ; Bertini, Enrico ; Messina, Sonia ; Pelliccioni, Marco ; D'Amico, Adele ; Colitto, Francesca ; Mirabella, Massimiliano ; Tiziano, Francesco D. ; Vitali, Tiziana ; Angelozzi, Carla ; Kinali, Maria ; Main, Marion ; Brahe, Christina. / Pilot trial of phenylbutyrate in spinal muscular atrophy. In: Neuromuscular Disorders. 2004 ; Vol. 14, No. 2. pp. 130-135.

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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{\textregistered}) 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",

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AU - Colitto, Francesca

AU - Mirabella, Massimiliano

AU - Tiziano, Francesco D.

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AU - Main, Marion

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Pilot trial of phenylbutyrate in spinal muscular atrophy

Abstract

Keywords

ASJC Scopus subject areas

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