期刊论文详细信息
Orphanet Journal of Rare Diseases
D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial
Dirk J. Lefeber1  Clara D. M. van Karnebeek2  Laura Tseng3  Hans Andersson4  Jaak Jaeken5  Eva Morava6  Peter Witters7  David Cassiman8 
[1] Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboudumc, Nijmegen, 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;Departments of Pediatrics, Emma Children’s Hospital, Amsterdam, The Netherlands;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;Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium;Department of Clinical Genomics, Mayo Clinic, Rochester, USA;Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium;Department of Development and Regeneration, KU Leuven, Leuven, Belgium;Metabolic Center, University Hospitals Leuven, Leuven, Belgium;
关键词: PMM2-CDG;    D-galactose;    Glycosylation;    Congenital disorder of glycosylation (CDG);    Nijmegen pediatric CDG rating scale (NPCRS);   
DOI  :  10.1186/s13023-020-01609-z
来源: Springer
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【 摘 要 】

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

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