title: The influence of a polymorphism in the gene encoding angiotensin converting enzyme (ACE) on treatment outcomes in late-onset Pompe patients receiving alglucosidase alfa.
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.
authors.affiliation: Sanofi, Framingham, MA, United States.
authors.forename: Rena C
authors.initials: RC
authors.lastname: Baek
authors.affiliation: Sanofi, Framingham, MA, United States.
authors.forename: Rachel
authors.initials: R
authors.lastname: Palmer
authors.affiliation: Sanofi, Framingham, MA, United States.
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Pomponio
authors.affiliation: Sanofi, Framingham, MA, United States.
authors.forename: Yuefeng
authors.initials: Y
authors.lastname: Lu
authors.affiliation: Sanofi, Framingham, MA, United States.
authors.forename: Xiwen
authors.initials: X
authors.lastname: Ma
authors.affiliation: Sanofi, Framingham, MA, United States.
authors.forename: Alison J
authors.initials: AJ
authors.lastname: McVie-Wylie
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