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

Journal: Orphanet journal of rare diseases 2021;16(1):138

PMID: 33743737

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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.

Address: Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium. [email protected].; Department of Development and Regeneration, KU Leuven, Leuven, Belgium. [email protected].; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA, USA.; Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium.; Departments of Pediatrics, Emma Children's Hospital, Amsterdam, The Netherlands.; Departments of Pediatrics, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands.; Department of Pediatrics, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands.; Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboudumc, Nijmegen, The Netherlands.; Metabolic Center, University Hospitals Leuven, Leuven, Belgium.; Department of Clinical Genomics, Mayo Clinic, Rochester, USA.

DOI: 10.1186/s13023-020-01609-z

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MeSH Terms: Congenital Disorders of Glycosylation, Dietary Supplements, Galactose, Humans, Phosphotransferases (Phosphomutases), Prospective Studies