Abstract
Background
Enzyme replacement therapy (ERT) for infantile-onset Pompe disease has been commercially available for almost 10 years. We report the experience of its use in a cohort treated at three specialist lysosomal treatment centres in the UK.
Methods
A retrospective case-note review was performed, with additional data being gathered from two national audits on all such patients treated with ERT. The impact on the outcome of various characteristics, measured just prior to the initiation of ERT (baseline), was evaluated using logistic regression.
Results
Thirty-three patients were identified; 13/29 (45 %) were cross-reactive immunological material (CRIM) negative, and nine were immunomodulated. At baseline assessment, 79 % were in heart failure, 66 % had failure to thrive and 70 % had radiological signs of focal pulmonary collapse. The overall survival rate was 60 %, ventilation-free survival was 40 % and 30 % of patients were ambulatory. Median follow-up of survivors was 4 years, 1.5 months (range 6 months to 13.5 years). As with previous studies, the CRIM status impacted on all outcome measures. However, in this cohort, baseline failure to thrive was related to death and lack of ambulation, and left ventricular dilatation was a risk factor for non-ventilator-free survival.
Conclusion
The outcome of treated patients remains heterogeneous despite attempts at immunomodulation. Failure to thrive at baseline and left ventricular dilation appear to be associated with poorer outcomes.
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Alexander Broomfield funding for travel from Genzyme Corporation, UK (A Sanofi company) as well as Biomarin Corporation. Simon Jones has received speaker honoraria and funding for travel from Genzyme Corporation, UK (A Sanofi company) and Biomarin, as well as a research grant from Genzyme Corporation, UK. Katie Harvey and Emmaline Cullen have received research grants from Genzyme Corporation, UK. Joan Fletcher receives funding from Genzyme Corporation UK.
James Davison, Niamh Finnegan, Matthew Fenton, Ashish Chikermane, Catherine Stewart, Saikat Santra, Suresh Vijay, Mike Champion, Lara Abulhoul, Stephanie Grunewald, Anupam Chakrapani, Maureen Cleary and Ashok Vellodi declare they have no conflict of interest.
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All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Declaration of Helsinki of 1975, as revised in 2000. Informed consent was obtained from all living patients or their parents for study inclusion.
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Communicated by: Robin Lachmann
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Broomfield, A., Fletcher, J., Davison, J. et al. Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy. J Inherit Metab Dis 39, 261–271 (2016). https://doi.org/10.1007/s10545-015-9898-5
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DOI: https://doi.org/10.1007/s10545-015-9898-5