sábado, 16 de septiembre de 2017

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

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


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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

  • 6MWT6-Minute Walk Test
  • ACEangiotensin-converting enzyme
  • Ddeletion
  • ERTenzyme replacement therapy
  • FVCforced vital capacity
  • GAAacid-alpha glucosidase
  • Iinsertion
  • IOPDinfantile-onset Pompe disease
  • LOPDlate-onset Pompe disease
  • LOTSLate-Onset Treatment Study
  • MRImagnetic resonance imaging
  • PCRpolymerase chain reaction
  • QMTquantitative muscle testing

Keywords

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

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