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. 2016 Jul 22:8:48-50.
doi: 10.1016/j.ymgmr.2016.07.005. eCollection 2016 Sep.

The influence of a polymorphism in the gene encoding angiotensin converting enzyme (ACE) on treatment outcomes in late-onset Pompe patients receiving alglucosidase alfa

Rena C Baek  1 , Rachel Palmer  1 , Robert J Pomponio  1 , Yuefeng Lu  1 , Xiwen Ma  1 , Alison J McVie-Wylie  1
Affiliations

The influence of a polymorphism in the gene encoding angiotensin converting enzyme (ACE) on treatment outcomes in late-onset Pompe patients receiving alglucosidase alfa

Rena C Baek et al. Mol Genet Metab Rep. .

Abstract

Correlations between angiotensin-converting enzyme (ACE) genotype (I/I, I/D, D/D), disease severity at baseline and response to enzyme replacement therapy (ERT) were assessed in the Pompe disease Late-Onset Treatment Study (LOTS). No correlations were observed between ACE genotype and disease severity at baseline. However, D/D patients appeared to have a reduced response to alglucosidase alfa treatment than I/I or I/D patients, suggesting that ACE polymorphisms may influence the response to alglucosidase alfa treatment and warrants further investigation.

Keywords: 6MWT, 6-Minute Walk Test; ACE, angiotensin-converting enzyme; Alglucosidase alfa; Angiotensin-converting enzyme; D, deletion; ERT, enzyme replacement therapy; Enzyme replacement therapy; FVC, forced vital capacity; GAA, acid-alpha glucosidase; Gene polymorphism; I, insertion; IOPD, infantile-onset Pompe disease; LOPD, late-onset Pompe disease; LOTS, Late-Onset Treatment Study; MRI, magnetic resonance imaging; PCR, polymerase chain reaction; Pompe disease; QMT, quantitative muscle testing.

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Figures

Fig. 1
Fig. 1
Changes in forced vital capacity (FVC) in the sitting position and 6-Minute Walk Test (6MWT) from baseline (BL) to 78 weeks or patient's last study timepoint by ACE genotype. (A) Change in FVC (individual patient dot plot [left] and mean changes [right]). (B) Change in 6MWT (individual patient dot plot [left] and mean changes [right]). (C) Mean changes over time in patients treated with alglucosidase alfa. *P < 0.01 and **P < 0.05 compared to D/D alglucosidase alfa group according to ANOVA. Error bars represent standard deviation (SD).
See this image and copyright information in PMC

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