Abstract
BackgroundPompe disease is a rare metabolic myopathy for which disease-specific enzyme replacement therapy (ERT) has been available since 2006. ERT has shown efficacy concerning muscle strength and pulmonary function in adult patients. However, no data on the effect of ERT on the survival of adult patients are currently available. The aim of this study was to assess the effect of ERT on survival in adult patients with Pompe disease.MethodsData were collected as part of an international observational study conducted between 2002 and 2011, in which patients were followed on an annual basis. Time-dependent Cox’s proportional hazards models were used for univariable and multivariable analyses.ResultsOverall, 283 adult patients with a median age of 48 years (range, 19 to 81 years) were included in the study. Seventy-two percent of patients started ERT at some time during follow-up, and 28% never received ERT. During follow-up (median, 6 years; range, 0.04 to 9 years), 46 patients died, 28 (61%) of whom had never received ERT. After adjustment for age, sex, country of residence, and disease severity (based on wheelchair and ventilator use), ERT was positively associated with survival (hazard ratio, 0.41; 95% CI, 0.19 to 0.87).ConclusionThis prospective study was the first to demonstrate the positive effect of ERT on survival in adults with Pompe disease. Given the relatively recent registration of ERT for Pompe disease, these findings further support its beneficial impact in adult patients.
Highlights
Pompe disease is a rare metabolic myopathy for which disease-specific enzyme replacement therapy (ERT) has been available since 2006
Pompe disease is a rare metabolic myopathy caused by a deficiency of lysosomal acid α-glucosidase (GAA), resulting in the intralysosomal accumulation of glycogen
This is the first study to show the beneficial effects of ERT on the survival of adult patients with Pompe disease, a clinically meaningful finding especially given the slowly progressive disease course and relatively short treatment period
Summary
Pompe disease is a rare metabolic myopathy for which disease-specific enzyme replacement therapy (ERT) has been available since 2006. The aim of this study was to assess the effect of ERT on survival in adult patients with Pompe disease. Pompe disease is characterized by a progressive loss of muscle strength and respiratory function and is inherited in an autosomal recessive manner [1]. Patients with classic infantile Pompe disease present with symptoms shortly after birth and develop significant, progressive hypertrophic cardiomyopathy and loss of skeletal muscle function within months if they remain untreated [5]. With the introduction of ERT, survival in patients with classic infantile Pompe disease has increased significantly; [5] the oldest infants treated with ERT are 14 years of age [4,6]
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