1. The influence of a polymorphism in the gene encoding angiotensin converting enzyme (ACE) on treatment outcomes in late-onset Pompe patients receiving alglucosidase alfa
- Author
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Alison McVie-Wylie, Rachel Palmer, Yuefeng Lu, Rena C. Baek, Robert J. Pomponio, and Xiwen Ma
- Subjects
medicine.medical_specialty ,ACE, angiotensin-converting enzyme ,Short Communication ,GAA, acid-alpha glucosidase ,Late onset ,6MWT, 6-Minute Walk Test ,Disease ,IOPD, infantile-onset Pompe disease ,PCR, polymerase chain reaction ,Endocrinology ,Internal medicine ,I, insertion ,Genotype ,Genetics ,medicine ,lcsh:QH301-705.5 ,Molecular Biology ,Gene ,Alglucosidase alfa ,lcsh:R5-920 ,D, deletion ,biology ,business.industry ,Gene polymorphism ,Pompe disease ,Angiotensin-converting enzyme ,Enzyme replacement therapy ,QMT, quantitative muscle testing ,ERT, enzyme replacement therapy ,lcsh:Biology (General) ,LOTS, Late-Onset Treatment Study ,FVC, forced vital capacity ,biology.protein ,lcsh:Medicine (General) ,LOPD, late-onset Pompe disease ,business ,MRI, magnetic resonance imaging ,medicine.drug - 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.
- Published
- 2016
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