Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease.

ABSTRACT:

Background

Enzyme-replacement therapy (ERT) in Pompe disease--an inherited metabolic disorder caused by acid α-glucosidase deficiency and characterized in infants by generalized muscle weakness and cardiomyopathy--can be complicated by immune responses. Infants that do not produce any endogenous acid α-glucosidase, so-called CRIM-negative patients, reportedly develop a strong response. We report the clinical outcome of our Dutch infants in relation to their CRIM status and immune response.

Methods

Eleven patients were genotyped and their CRIM status was determined. Antibody formation and clinical outcome were assessed for a minimum of 4 years.

Results

ERT was commenced between 0.1 and 8.3 months of age, and patients were treated from 0.3 to 13.7 years. All patients de

SUBMITTER: van Gelder CM 

PROVIDER: S-EPMC4341007 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature