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. 2025 Jul;145(3):109129.
doi: 10.1016/j.ymgme.2025.109129. Epub 2025 May 6.

State of the art management practices for liver glycogen storage disorders: Results from an international survey among metabolic centres

Sarah C Grünert  1 , Terry G J Derks  2 , Alessandro Rossi  3 ; GSD Collaboration group
Collaborators, Affiliations
Free article

State of the art management practices for liver glycogen storage disorders: Results from an international survey among metabolic centres

Sarah C Grünert et al. Mol Genet Metab. 2025 Jul.
Free article

Abstract

Background: Liver glycogen storage disorders (GSDs) are rare inherited disorders of carbohydrate metabolism that are clinically characterized by hepatomegaly and fasting intolerance. This group of disorders comprises GSD Ia and Ib as well as the so-called ketotic GSDs including GSD III, VI, IX, XI and 0a. Although clinical practice guidelines exist for most GSD subtypes, diagnostics, treatment and monitoring differ significantly among metabolic centres. The aim of this study was to gain insight into current clinical practice for liver GSDs.

Methods: An international web-based survey was performed among health care professionals involved in the care of individuals with liver GSDs.

Results: Sixty-seven respondents from 28 different countries caring for approximately 2650 liver GSD patients completed the survey. While the diagnostic approach was generally consistent, significant differences among metabolic centres are still observed with respect to monitoring parameters and treatment approaches. Reasons for these differences are local availability of management tools and treatment options, the rarity of the different GSD subtypes, the experiences of health care professionals, and the existence of extreme phenotypes.

Conclusion: The development of a standard set of outcomes for patients with liver GSDs is warranted as a reference for both daily care and the evaluation of safety and efficacy of future therapies. For various parameters that serve as valuable outcome measures, tools and target values should be better defined.

Keywords: Diagnostics; Liver glycogen storage diseases; Management; Monitoring; Treatment.

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Conflict of interest statement

Declaration of competing interest SCG: reports no conflicts of interest relevant to this work. She has received honoraria for educational lectures from Vitaflo GmbH and Ultragenyx Pharmaceutical Inc. as well as for the creation of patient information material for Danone Deutschland GmBH, and received support for attending metabolic expert meetings from Nutricia Metabolics GmbH. She participated in an advisory board for Ultragenyx Pharmaceutical, Inc. TGJD: There are confidentiality agreements with third parties. In the past 36 months, there have been consultation agreements (with Danone S.A., Ultragenyx Pharmaceutical Inc., Moderna Inc., and Beam Therapeutics Inc.), contracts for financial research support for investigator-initiated research (NCT04311307) and sponsor-initiated research (NCT03517085, NCT03970278, NCT05139316, and NCT05196165), honoraria for lectures or presentations (by MEDTalks, Prelum, and Danone S.A.), and participations in a Data Safety Monitoring Board (NCT05095727) and Advisory Boards (Ultragenyx Pharmaceutical Inc., Moderna Inc., and Beam Therapeutics Inc.). For all private-public relationships, all contracts are via UMCG Contract Research Desk and all payments are to UMCG. AR: There are confidentiality agreements with third parties. In the past 36 months there have been consultation agreements or honoraria for lectures or presentations with Nestlé, Danone S.A. and Ultragenyx Pharmaceutical Inc. GSD Collaboration group: A.S.L.-H. reports support of scientific meetings by Danone GmbH (Nutricia metabolics). J.M. reports involvement as PI in the phase II and phase III DTX401 studies by Ultragenyx. D.W. reports consulting agreements with the following companies: Ultragenyx, Beam Therapeutics, Prime Medicine, Moderna, Covert Therapeutics, CTI, Abata Therapeutics, Alltrna, Siren Biotechnology, Danone/Nutricia, Cometa Therapeutics, Golden Heart Flower, Ltd., ZipBio, Chaim Medicine, Vitaflo / Nestle, WIRB-Copernicus Group, SOLA Biotherapeutics. R.S. is a subinvestigator for the Ultragenyx gene therapy study (DTX401-CL301) for GSD Ia. All other authors declare no conflict of interests.