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Observational Study
. 2013 Mar 27:8:49.
doi: 10.1186/1750-1172-8-49.

Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study

Deniz Güngör, Michelle E Kruijshaar, Iris Plug, Ralph B D'Agostino, Marloes L C Hagemans, Pieter A van Doorn, Arnold J J Reuser, Ans T van der Ploeg
Observational Study

Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study

Deniz Güngör et al. Orphanet J Rare Dis. .

Abstract

Background: Pompe 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.

Methods: Data 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.

Results: Overall, 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).

Conclusion: This 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.

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Figures

Figure 1
Figure 1
Adjusted Hazard Ratios of the Different Models Describing the Relationship Between ERT and Survival. Model 1a: Intent-to-treat approach with enzyme replacement therapy (ERT), age categories, and disease severity as time-dependent covariates. Model 2a: Intent-to-treat approach with only ERT as time-dependent covariate. Model 1b: Analysis excluding person-time after discontinuation of treatment with ERT, age categories, and disease severity as time-dependent covariates. Model 2b: Analysis excluding person-time after discontinuation of treatment with only ERT as time-dependent covariate.
See this image and copyright information in PMC

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