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

Orphanet J Rare Dis. 2021 Mar 20;16(1):138. doi: 10.1186/s13023-020-01609-z.


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.

Keywords: Congenital disorder of glycosylation (CDG); D-galactose; Glycosylation; Nijmegen pediatric CDG rating scale (NPCRS); PMM2-CDG.

Publication types

  • Clinical Trial
  • Letter
  • Multicenter Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Congenital Disorders of Glycosylation* / drug therapy
  • Dietary Supplements
  • Galactose
  • Humans
  • Phosphotransferases (Phosphomutases)* / deficiency
  • Phosphotransferases (Phosphomutases)* / genetics
  • Prospective Studies


  • Phosphotransferases (Phosphomutases)
  • Galactose

Supplementary concepts

  • Congenital disorder of glycosylation type 1A

Associated data

  • ClinicalTrials.gov/NCT02955264