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Clinical Trial
. 2021 Mar 20;16(1):138.
doi: 10.1186/s13023-020-01609-z.

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

Peter Witters  1   2 , Hans Andersson  3 , Jaak Jaeken  4 , Laura Tseng  5 , Clara D M van Karnebeek  6   7 , Dirk J Lefeber  8 , David Cassiman  9 , Eva Morava  4   10
Affiliations
Clinical Trial

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

Peter Witters et al. Orphanet J Rare Dis. .

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.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Response to Galactose treatment. Response to escalating dose of oral D-galactose supplementation in nine patients carrying different biallelic pathogenic variants in PMM2 on the NPCRS score (a)–(d) and on glycosylation (e), (f)
See this image and copyright information in PMC

References

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