Publications by authors named "J M P van den Hout"
Streptococcus suis is an important pig pathogen that can cause severe disease in the post-weaning period. As there are no commercial vaccines available in the Netherlands, antibiotic treatment is often necessary to control disease. S.
View Article and Find Full Text PDFThe European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Orphanet J Rare Dis
November 2024
Article Synopsis
- Clinical pathway recommendations (CPR) provide guidance on managing specific diagnoses, in this case, Pompe disease, a metabolic disorder caused by a deficiency in a specific enzyme.
- The CPR document was created by a working group from MetabERN, which focuses on metabolic diseases, and involved systematic literature searches and quality assessments based on established methodologies.
- This document aims to standardize care for Pompe disease patients by addressing various aspects including pathophysiology, diagnosis, treatment, and follow-up strategies for healthcare providers.
Classic infantile Pompe disease is caused by abnormal lysosomal glycogen accumulation in multiple tissues, including the brain due to a deficit in acid α-glucosidase. Although treatment with recombinant human acid α-glucosidase has dramatically improved survival, recombinant human acid α-glucosidase does not reach the brain, and surviving classic infantile Pompe patients develop progressive cognitive deficits and white matter lesions. We investigated the feasibility of measuring non-invasively glycogen build-up and other metabolic alterations in the brain of classic infantile Pompe patients.
View Article and Find Full Text PDFStart, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024.
Eur J Neurol
September 2024
Article Synopsis
- Two new enzyme replacement therapies for late-onset Pompe disease received approval from the European Medicines Agency between 2022 and 2023, prompting an update to treatment guidelines by the European Pompe Consortium (EPOC).
- The EPOC, consisting of 25 experts from eight countries, developed a consensus on when to start, switch, or stop ERT based on in-person meetings and discussions.
- Recommendations emphasize starting ERT in symptomatic patients, criteria for switching treatments based on muscle function stabilization, and the option of stopping ERT if there are severe reactions or lack of improvement, with regular assessments every six months to monitor progress.
The aim of this longitudinal cohort study, is to provide more insight into the pattern of brain abnormalities, and possible consequences for cognitive functioning, in patients with classic infantile Pompe disease. We included 19 classic infantile Pompe patients (median age last assessment 8.9 years, range 1.
View Article and Find Full Text PDF