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D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot
Peter Witters1,2, Hans Andersson3, Jaak Jaeken4
1Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium. Peter.witters@uzleuven.be.
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.
