Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study.

ABSTRACT:

Background

Pompe disease is a lysosomal storage disease treated with life-long enzyme replacement therapy (ERT). Home-based ERT has been provided in the Netherlands since 2008 because it diminishes the burden of treatment, increases patient flexibility and autonomy, and is thus a more patient-centred approach to ERT.

Methods

All Dutch Pompe patients receiving alglucosidase alfa infusions at home were approached to participate in a questionnaire to validate the safety of home-based ERT. Prospective data on symptoms occurring during or within 48 h after infusion and retrospective data on infusion associated reactions (IARs) in the last three months were collected four times during one year.

Results

In total, 116 out of 120 eligible patients (17 classic infantile, 2 atyp

SUBMITTER: Ditters IAM 

PROVIDER: S-EPMC10169363 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature