Pilot trial of albuterol in facioscapulohumeral muscular dystrophy. FSH-DY Group.

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 beta2-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 beta2-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 beta2-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.