D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial

Peter Witters, Hans Andersson, Jaak Jaeken, Laura Tseng, Clara D.M. van Karnebeek, Dirk J. Lefeber, David Cassiman, Eva Morava

Research output: Contribution to journalLetterpeer-review

Abstract

PMM2-CDG is the most prevalent congenital disorder of glycosylation (CDG) with only symptomatic therapy. Some CDG have been successfully treated with D-galactose. We performed an open-label pilot trial with D-galactose in 9 PMM2-CDG patients. Overall, there was no significant improvement but some milder patients did show positive clinical changes; also there was a trend toward improved glycosylation. Larger placebo-controlled studies are required to determine whether D-galactose could be used as supportive treatment in PMM2-CDG patients. Trial registration ClinicalTrials.gov Identifier: NCT02955264. Registered 4 November 2016, https://clinicaltrials.gov/ct2/show/NCT02955264.

Original languageEnglish (US)
Article number138
JournalOrphanet Journal of Rare Diseases
Volume16
Issue number1
DOIs
StatePublished - Dec 2021

Keywords

  • Congenital disorder of glycosylation (CDG)
  • D-galactose
  • Glycosylation
  • Nijmegen pediatric CDG rating scale (NPCRS)
  • PMM2-CDG

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pharmacology (medical)

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