Pilot trial of albuterol in facioscapulohumeral muscular dystrophy

Background/Objective: Facioscapulohumeral muscular dystrophy (FSHD) is currently untreatable, and there have been few therapeutic trials of any agent in the disease. Animal studies have demonstrated that β 2 -adrenergic agonists induce muscle hypertrophy and prevent atrophy after a variety of physical and biochemical insults, and two human studies have shown that these agents increase certain measures of strength in healthy volunteers. We conducted an open-label pilot trial of a β 2 -agonist (albuterol) in patients with FSHD. Methods: Fifteen FSHD patients were given sustained-release albuterol (16.0 mg/day) for 3 months. The primary outcome measure was lean body mass, which was assessed through dual energy X-ray absorptiometry (DEXA). Strength was evaluated through maximal voluntary isometric contraction testing (MVICT) and manual muscle testing. Results: Albuterol significantly increased DEXA 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), representing an overall 12% improvement in strength. Conclusions: These encouraging results suggest that β 2 -agonists may have a role in treating FSHD and possibly other neuromuscular diseases. The effects of albuterol in FSHD are currently being evaluated in a larger, randomized, double-blind, placebo-controlled trial lasting 1 year.