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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.

In: Orphanet journal of rare diseases, Vol. 16, No. 1, 138, 01.12.2021.

Research output: Contribution to journalComment/Letter to the editorAcademic

Harvard

Witters, P, Andersson, H, Jaeken, J, Tseng, L, van Karnebeek, CDM, Lefeber, DJ, Cassiman, D & Morava, E 2021, 'D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial', Orphanet journal of rare diseases, vol. 16, no. 1, 138. https://doi.org/10.1186/s13023-020-01609-z

APA

Witters, P., Andersson, H., Jaeken, J., Tseng, L., van Karnebeek, C. D. M., Lefeber, D. J., Cassiman, D., & Morava, E. (2021). D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial. Orphanet journal of rare diseases, 16(1), [138]. https://doi.org/10.1186/s13023-020-01609-z

Vancouver

Author

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. In: Orphanet journal of rare diseases. 2021 ; Vol. 16, No. 1.

BibTeX

@article{a4e94294f4894493b36eb6063f0de61d,
title = "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.",
keywords = "Congenital disorder of glycosylation (CDG), D-galactose, Glycosylation, Nijmegen pediatric CDG rating scale (NPCRS), PMM2-CDG",
author = "Peter Witters and Hans Andersson and Jaak Jaeken and Laura Tseng and {van Karnebeek}, {Clara D. M.} and Lefeber, {Dirk J.} and David Cassiman and Eva Morava",
note = "Funding Information: This work is partially funded by the grant titled Frontiers in Congenital Disorders of Glycosylation (1U54NS115198-01) from the National Institute of Neurological Diseases and Stroke (NINDS) and the National Center for Advancing Translational Sciences (NCATS) and the Rare Disorders Consortium Research Network (RDCRN). This work was partially funded by FWO Flanders, Belgium (G049220N). P.W., J.J. and D.C. are members of the European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN)?Project ID No 739543. P.W. is supported by the clinical research fund, University Hospitals Leuven, Leuven, Belgium. D.C. is a recipient of the clinical investigatorship, FWO Flanders, Belgium. Publisher Copyright: {\textcopyright} 2021, The Author(s). Copyright: Copyright 2021 Elsevier B.V., All rights reserved.",
year = "2021",
month = dec,
day = "1",
doi = "10.1186/s13023-020-01609-z",
language = "English",
volume = "16",
journal = "Orphanet journal of rare diseases",
issn = "1750-1172",
publisher = "BioMed Central",
number = "1",

}

RIS

TY - JOUR

T1 - D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial

AU - Witters, Peter

AU - Andersson, Hans

AU - Jaeken, Jaak

AU - Tseng, Laura

AU - van Karnebeek, Clara D. M.

AU - Lefeber, Dirk J.

AU - Cassiman, David

AU - Morava, Eva

N1 - Funding Information: This work is partially funded by the grant titled Frontiers in Congenital Disorders of Glycosylation (1U54NS115198-01) from the National Institute of Neurological Diseases and Stroke (NINDS) and the National Center for Advancing Translational Sciences (NCATS) and the Rare Disorders Consortium Research Network (RDCRN). This work was partially funded by FWO Flanders, Belgium (G049220N). P.W., J.J. and D.C. are members of the European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN)?Project ID No 739543. P.W. is supported by the clinical research fund, University Hospitals Leuven, Leuven, Belgium. D.C. is a recipient of the clinical investigatorship, FWO Flanders, Belgium. Publisher Copyright: © 2021, The Author(s). Copyright: Copyright 2021 Elsevier B.V., All rights reserved.

PY - 2021/12/1

Y1 - 2021/12/1

N2 - 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.

AB - 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.

KW - Congenital disorder of glycosylation (CDG)

KW - D-galactose

KW - Glycosylation

KW - Nijmegen pediatric CDG rating scale (NPCRS)

KW - PMM2-CDG

UR - http://www.scopus.com/inward/record.url?scp=85103148684&partnerID=8YFLogxK

U2 - 10.1186/s13023-020-01609-z

DO - 10.1186/s13023-020-01609-z

M3 - Comment/Letter to the editor

C2 - 33743737

VL - 16

JO - Orphanet journal of rare diseases

JF - Orphanet journal of rare diseases

SN - 1750-1172

IS - 1

M1 - 138

ER -

ID: 17638988