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

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 mi...

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Autores principales: Witters, Peter, Andersson, Hans, Jaeken, Jaak, Tseng, Laura, van Karnebeek, Clara D. M., Lefeber, Dirk J., Cassiman, David, Morava, Eva
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7980351/
https://www.ncbi.nlm.nih.gov/pubmed/33743737
http://dx.doi.org/10.1186/s13023-020-01609-z
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author Witters, Peter
Andersson, Hans
Jaeken, Jaak
Tseng, Laura
van Karnebeek, Clara D. M.
Lefeber, Dirk J.
Cassiman, David
Morava, Eva
author_facet Witters, Peter
Andersson, Hans
Jaeken, Jaak
Tseng, Laura
van Karnebeek, Clara D. M.
Lefeber, Dirk J.
Cassiman, David
Morava, Eva
author_sort Witters, Peter
collection PubMed
description 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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spelling pubmed-79803512021-03-22 D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial Witters, Peter Andersson, Hans Jaeken, Jaak Tseng, Laura van Karnebeek, Clara D. M. Lefeber, Dirk J. Cassiman, David Morava, Eva Orphanet J Rare Dis Letter to the Editor 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 BioMed Central 2021-03-20 /pmc/articles/PMC7980351/ /pubmed/33743737 http://dx.doi.org/10.1186/s13023-020-01609-z Text en © The Author(s) 2021 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Letter to the Editor
Witters, Peter
Andersson, Hans
Jaeken, Jaak
Tseng, Laura
van Karnebeek, Clara D. M.
Lefeber, Dirk J.
Cassiman, David
Morava, Eva
D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial
title D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial
title_full D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial
title_fullStr D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial
title_full_unstemmed D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial
title_short D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial
title_sort d-galactose supplementation in individuals with pmm2-cdg: results of a multicenter, open label, prospective pilot clinical trial
topic Letter to the Editor
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7980351/
https://www.ncbi.nlm.nih.gov/pubmed/33743737
http://dx.doi.org/10.1186/s13023-020-01609-z
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