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Updated: Feb 4, 2026

Longitudinal Follow-Up of Urinary Tract Infections and Their Treatment in Mice using Bioluminescence Imaging
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Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?

Peter Witters1,2, Tomas Honzik3, Eric Bauchart4

  • 1Pediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium. peter.witters@uzleuven.be.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|October 9, 2018
PubMed
Abstract

Insights

PMM2-CDG patients experience stable clinical symptoms despite biochemical improvements over time. This longitudinal data is vital for future clinical trial endpoint definitions in this common congenital disorder of glycosylation.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • PMM2-CDG is the most prevalent congenital disorder of glycosylation (CDG).
  • CDGs manifest with neurological or multisystemic symptoms.
  • Longitudinal data on PMM2-CDG natural history is limited.

Purpose of the Study:

  • To investigate the longitudinal evolution of clinical and biochemical features in PMM2-CDG patients.
  • To assess changes in disease severity over time using the Nijmegen CDG severity score.

Main Methods:

  • Retrospective analysis of clinical and laboratory data from 75 PMM2-CDG patients.
  • Average follow-up duration of 7.4 years.
  • Assessment of clinical severity, functional status, and biochemical markers.

Main Results:

  • No significant change in overall clinical severity was observed on a group level.
  • Improvements noted in mobility, communication, liver and endocrine function, and eye movements.
  • Biochemical markers, including aPTT, factor XI, protein C, antithrombin, TSH, and liver transaminases, showed improvement or normalization.

Conclusions:

  • PMM2-CDG patients exhibit a stable clinical course with spontaneous biochemical improvements.
  • The findings provide critical insights for defining clinical trial endpoints in PMM2-CDG research.
Keywords:
CDG severity scalePMM2-CDGcoagulationliver function testlong-term follow-up

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