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

Orphanet Journal of Rare Diseases

Ans T van der Ploeg⁵  Arnold JJ Reuser¹  Pieter A van Doorn²  Marloes LC Hagemans³  Ralph B D’Agostino⁴  Iris Plug³  Michelle E Kruijshaar³  Deniz Güngör³ 

[1] Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands;Department of Neurology, Erasmus MC University Medical Center, Rotterdam, the Netherlands;Department of Paediatrics, Erasmus MC University Medical Center, Rotterdam, the Netherlands;Department of Mathematics and Statistics, Boston University, Harvard Clinical Research Institute, Boston, MA, USA;Department of Paediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center – Sophia Children’s Hospital, P.O. Box 2060, Rotterdam, CB 3000, the Netherlands

关键词: Alglucosidase alfa;    Enzyme replacement therapy;    Glycogen storage disease type II;    Lysosomal storage disease;    Acid maltase deficiency;    Survival;    Pompe disease;   

Others  :  864067
DOI  :  10.1186/1750-1172-8-49

 received in 2013-02-04, accepted in 2013-03-20,  发布年份 2013

【 摘 要 】

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.

【 授权许可】

   
2013 Güngör et al.; licensee BioMed Central Ltd.

【 图 表 】

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