The influence of a polymorphism in the gene encoding angiotensin converting enzyme (ACE) on treatment outcomes in late-onset Pompe patients receiving alglucosidase alfa.
Mol Genet Metab Rep
; 8: 48-50, 2016 Sep.
Article
em En
| MEDLINE
| ID: mdl-27489778
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.
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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1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Mol Genet Metab Rep
Ano de publicação:
2016
Tipo de documento:
Article