Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy.

ABSTRACT:

Objectives

Pompe disease is a progressive metabolic myopathy for which enzyme replacement therapy (ERT) was approved in 2006. While various publications have examined the effects of ERT in classic-infantile patients and in adults, little has been published on ERT in children with non-classic presentations.

Study design

This prospective study was conducted from June 1999 to May 2015. Seventeen patients from various countries participated. Outcome measures comprised muscle function (6-minute walk test, quick motor-function test (QMFT)), muscle strength (hand-held dynamometry; manual muscle testing), and lung function (FVC sitting and supine). For each outcome measure, we used linear mixed-effects models to calculate the difference at group level between the start of therapy an

SUBMITTER: van der Meijden JC 

PROVIDER: S-EPMC6326992 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature