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

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, 
• Rachel Palmer, 
• Robert J. Pomponio, 
• Yuefeng Lu, 
• Xiwen Ma, 
• Alison J. McVie-Wylie^, 

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https://doi.org/10.1016/j.ymgmr.2016.07.005

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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.

Abbreviations

• 6MWT, 6-Minute Walk Test; 
• ACE, angiotensin-converting enzyme; 
• D, deletion; 
• ERT, enzyme replacement therapy; 
• FVC, forced vital capacity; 
• GAA, acid-alpha glucosidase; 
• 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; 
• QMT, quantitative muscle testing

Keywords

• Pompe disease; 
• Angiotensin-converting enzyme; 
• Gene polymorphism; 
• Enzyme replacement therapy; 
• Alglucosidase alfa
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