Drug treatment for facioscapulohumeral muscular dystrophy

Abstract

Facioscapulohumeral muscular dystrophy is a progressive muscle diseasewhich has no agreed treatment. Early suggestions that corticosteroidsmight be helpful were not supported by a subsequent open label study.The beta 2 adrenergic agonist albuterol, also known as salbutamol,is known to have anabolic effects which might be beneficial for facioscapulohumeralmuscular dystrophy. Creatine has been used as a muscle performanceenhancer by athletes and it might be helpful in muscular dystrophiesincluding facioscapulohumeral muscular dystrophy.The objective ofthe review was to determine whether there is any drug treatment whichalters the progression of facioscapulohumeral muscular dystrophy.Wesearched the Cochrane Neuromuscular Disease Group specialised register(searched August 2003), MEDLINE (January 1966 to August 2003) andEMBASE (January 1980 to August 2003) for any references to facioscapulohumeralmuscular dystrophy. Abstracts from the major neurological meetingsand trial bibliographies were also searched for further referencesto trials. Experts were contacted for information regarding unpublishedtrials or trials in progress.We included all randomised or quasi-randomisedtrials of any drug treatment for facioscapulohumeral muscular dystrophy,in adults with a recognised diagnosis of facioscapulohumeral musculardystrophy. Trials had to include an assessment of muscle strengthat one year.All identified trials were independently assessed byboth reviewers to ensure that they fulfilled the selection criteriaand were then rated for their quality. Trial data were extractedand entered by one reviewer and checked by the other. If appropriatedata existed a weighted treatment effect was to be calculated acrosstrials using the Cochrane statistical package, Review Manager. Theresults were to have been expressed as relative risks and 95% confidenceintervals and risk differences and 95% confidence intervals fordichotomous outcomes, and weighted mean differences and 95% confidenceintervals for continuous outcomes.Two published high quality randomisedcontrolled trials fulfilled the selection criteria. One comparedcreatine supplementation with placebo and the other compared highand low-dose albuterol with placebo. A further unpublished randomisedcontrolled trial of albuterol in facioscapulohumeral muscular dystrophywas identified. The creatine trial showed a non-significant differencein favour of creatine. The albuterol trial showed no significantdifference in muscle strength at one year but some secondary measuressuch as lean body mass and handgrip strength did improve.There isno evidence from randomised controlled trials to support any drugtreatment for facioscapulohumeral muscular dystrophy but only tworandomised controlled trials have been published.