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Review
. 2025 Mar;48(2):e70011.
doi: 10.1002/jimd.70011.

The Therapeutic Future for Congenital Disorders of Glycosylation

I J J Muffels  1 , T Kozicz  1   2 , E O Perlstein  3 , E Morava  1   4
Affiliations
Review

The Therapeutic Future for Congenital Disorders of Glycosylation

I J J Muffels et al. J Inherit Metab Dis. 2025 Mar.

Abstract

The past decade, novel treatment options for congenital disorders of glycosylation (CDG) have advanced rapidly. Innovative therapies, targeting both the root cause, the affected metabolic pathways, and resulting manifestations, have transitioned from the research stage to practical applications. However, with novel therapeutic abilities, novel challenges await, specifically when it concerns the large number of clinical trials that need to be performed in order to treat all 190 genetic defects that cause CDG known to date. The present paper aims to provide an overview of how the CDG field can keep advancing its therapeutic strategies over the coming years with these challenges in mind. We focus on three important pillars that may shape the future of CDG: the use of disease models, clinical trial readiness, and the possibility to make individualized treatments scalable to the entire CDG cohort.

Keywords: CDG; basket trials; clinical trial readiness; congenital disorder of glycosylation; disease models; glycosylation; novel therapies.

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References

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