PILOT TRIAL OF ALBUTEROL IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY

Background/Objective: Facioscapulohumeral muscular dystrophy (FSBD) is currently untreatable, and there have been few therapeutic trials of any agent in the disease. Animal studies have demonstrated that beta(2 )-adrenergic agonists induce muscle hypertrophy and prevent atrophy af ter a variety of physical and biochemical insults, and two human studi es have shown that these agents increase certain measures of strength in healthy volunteers. We conducted an open-label pilot trial of a bet a(2)-agonist (albuterol) in patients with FSHD. Methods: Fifteen FSHD patients were given sustained-release albuterol (16.0 mg/day) for 3 mo nths. The primary outcome measure was lean body mass, which was assess ed through dual energy X-ray absorptiometry (DEXA). Strength was evalu ated through maximal voluntary isometric contraction testing (MVICT) a nd manual muscle testing. Results: Albuterol significantly increased D EXA lean body mass (the skeletal muscle compartment) by 1.29 +/- 1.18 kg (mean +/- SD, p = 0.001). Strength assessed through composite MVICT scores also increased by an average of 0.33 +/- 0.60 (p = 0.05), repr esenting an overall 12% improvement in strength. Conclusions: These en couraging results suggest that beta(2)-agonists may have a role in tre ating FSHD and possibly other neuromuscular diseases. The effects of a lbuterol in FSHD are currently being evaluated in a larger, randomized , double-blind, placebo-controlled trial lasting 1 year.