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

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.

• Authors: Peter Witters, Hans Andersson, Jaak Jaeken, Laura Tseng, Clara D M van Karnebeek, Dirk J Lefeber, David Cassiman, Eva Morava
• Journal: Orphanet journal of rare diseases (Orphanet J Rare Dis) Vol. 16 Issue 1 Pg. 138 (03 20 2021) ISSN: 1750-1172 [Electronic] England
• PMID: 33743737 (Publication Type: Clinical Trial, Letter, Multicenter Study, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)

Chemical References

• Phosphotransferases (Phosphomutases)
• Galactose

Topics

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