Dietary Treatment Strategies and Metabolic Control in Glycogen Storage Disease Type I

NCT06852612 | Recruiting DMC

• 1 other identifier: 2024-02154
• Study Type: interventional
• Target: 20
• Locations: 1 country
• Sites: 1

Brief Summary

The present project will specifically assess metabolic effects of dietary interventions with controlled intake of fructose and fructose/galactose in GSDI, with the aim to provide evidence whether relaxed dietary restrictions of fructose and galactose may be justified in treatment recommendations at least for adults, which would considerably enlarge food choice in everyday life of the patients with an expected positive impact on the quality of life of patients with this rare disorder.

Conditions

Glycogen Storage Disease Type I

Keywords

Gsd1; Metabolism; Fructose; Galactose

Outcome Measures

Primary Outcomes (1)

• Change in lactate during the dietary intervention compared to baseline under the usual diet

  Lactate belongs to the parameters of secondary metabolic disturbance traditionally used to estimate metabolic control in GSDI in routine clinical practice (lactate, triglycerides, uric acid). Redundant measurements of lactate are performed in blood as well as in collected urine.

  4 Weeks

Secondary Outcomes (4)

• Change in plasma triglycerides during the dietary intervention compared to baseline (as parameters traditionally measured together with lactate to estimate overall metabolic control)

  4 Weeks

• Change in plasma uric acid during the dietary intervention compared to baseline (as parameters traditionally measured together with lactate to estimate overall metabolic control)

  4 Weeks

• Plasma metabolite changes in targeted metabolomics during the dietary intervention compared to baseline measurements.

  4 Weeks

• Plasma metabolite changes in targeted lipidomics during the dietary intervention compared to baseline measurements.

  4 Weeks

Study Arms (2)

Diet with additional fructose intake

EXPERIMENTAL

Dietary Supplement: Fructose

Diet with additional fructose and galactose intake

EXPERIMENTAL

Dietary Supplement: Fructose and galactose

Interventions

Fructose DIETARY_SUPPLEMENT

40g fructose (free and bound, max amount of fructose from added free sugar/saccharose 25g)

Diet with additional fructose intake

Fructose and galactose DIETARY_SUPPLEMENT

10g galactose (mostly from lactose) plus 40g of fructose (free and bound, max amount of fructose from added free sugar/saccharose 25g)

Diet with additional fructose and galactose intake

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Genetically and/or enzymatically confirmed diagnosis of GSDI (GSDIa or GSDIb)
• Male or female ≥ 18y
• Restriction of fructose intake in usual dietary treatment
• Written informed consent

You may not qualify if:

• Non-compliance with routine dietary treatment
• Pregnancy or lactation
• Liver transplant
• Recurrent hospitalisations due to metabolic decompensation within the last 12 months
• Severe chronic kidney disease with glomerular filtration rate (GFR) \< 30 ml/min
• For GSDIb: Severe, uncontrolled symptomatic inflammatory bowel disease

Sponsors & Collaborators

• Insel Gruppe AG, University Hospital Bern: lead
• University of Zurich: collaborator
• University Hospital Freiburg: collaborator
• University Hospital Heidelberg: collaborator
• Medical University Innsbruck: collaborator

Study Sites (1)

Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism, Inselspital, Bern University Hospital

Bern, 3010, Switzerland

RECRUITING

MeSH Terms

Conditions

Glycogen Storage Disease Type I

Interventions

Fructose; Galactose

Condition Hierarchy (Ancestors)

Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Hexoses; Monosaccharides; Sugars; Carbohydrates; Ketoses

Study Officials

• Michel Hochuli, MD, PhD

  Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Michel Hochuli, MD, PhD

CONTACT

+41 31 664 03 18; michel.hochuli@insel.ch

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: CROSSOVER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 24, 2025
• First Posted: February 28, 2025
• Study Start: April 24, 2025
• Primary Completion (Estimated): March 1, 2027
• Study Completion (Estimated): March 1, 2027
• Last Updated: April 24, 2025

Record last verified: 2025-04

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ANALYTIC CODE
• Time Frame: IPD will be made available starting 12 months after publication of trial results.
• Access Criteria: Ethics approval, as applicable under Swiss legislation, will need to be obtained by those requesting the data. Additionally, a data transfer and processing agreement must be in place to ensure compliance with data protection regulations.

Locations

CH (1)