Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review
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REVIEW
Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review Antonio Toscano • Benedikt Schoser
Received: 1 June 2012 / Revised: 18 July 2012 / Accepted: 20 July 2012 / Published online: 28 August 2012 Ó Springer-Verlag 2012
Abstract Glycogen storage disease type 2/Pompe disease is a progressive muscle disorder with a wide range of phenotypic presentations, caused by an inherited deficiency of acid alpha-glucosidase. Since 2004 only a limited number of patients have been treated with recombinant human alpha-glucosidase from rabbit milk whereas since 2006 enzyme replacement therapy (ERT) with alglucosidase alfa has been licensed for the treatment of Pompe disease. This systematic review evaluates the clinical efficacy and safety of alglucosidase alfa treatment of juvenile and adult patients with late-onset Pompe disease (LOPD). Studies of alglucosidase alfa treatment of LOPD patients— published up to January 2012—were identified by electronic searching of the EMBASE and MEDLINE databases, and manual searching of the reference lists. Data on ERT outcomes were extracted from selected papers and analyzed descriptively. No statistical analysis was performed owing to data heterogeneity. Twenty-one studies containing clinical data from 368 LOPD patients were analyzed. Overall, at least two-thirds of patients were stabilized or had improved creatine kinase levels and muscular and/or respiratory function following treatment with alglucosidase alfa. ERT was well tolerated; most adverse events were mild or moderate infusion-related reactions. In conclusion, alglucosidase alfa treatment is effective and well tolerated and attenuates progression of A. Toscano (&) Department of Neurosciences, Psychiatry and Anesthesiology, AOU Policlinico ‘‘G. Martino’’, University of Messina, 98125 Messina, Italy e-mail: [email protected] B. Schoser Department of Neurology, Friedrich-Baur Institut, Ludwig-Maximilians University Munich, Munich, Germany
LOPD in most patients. Further research is required to investigate factors such as age at diagnosis, phenotypic presentation, and genotypic characteristics, identification of which may enable better clinical and therapeutic management of LOPD patients. Keywords Late-onset Pompe disease (LOPD) Glycogen storage disease type 2 Enzyme replacement therapy Alglucosidase alfa Systematic review
Introduction Glycogen storage disease type 2/Pompe disease is a rare, progressive muscle disorder caused by a deficiency of acid alpha-glucosidase (GAA). In patients with Pompe disease, glycogen gradually accumulates in muscle cells causing irreversible muscle damage and a range of clinical signs and symptoms including respiratory insufficiency and skeletal muscle weakness. Overall incidence ranges from 1 in 33,000 to 1 in 300,000, depending on geographic region and ethnicity [3, 6, 18]. Pompe disease may present with different clinical entities depending on the age of onset: two classical phenotypes have been described as infantile and late-onset forms. The infantile ons
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