Glycogen Storage Disease Type I
Conditions
Keywords
Gsd1, Metabolism, Fructose, Galactose
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.
Detailed description
To assess relaxed restriction of fructose and fructose/galactose intake on secondary metabolic alterations in GSDI, (i) by looking at the traditional parameters for assessing metabolic control in clinical chemistry (lactate, triglycerides, uric acid), and (ii) by using a broad analytical approach relying on targeted metabolomics/lipidomics. It is hypothesized that relaxed restrictions on the intake of fructose and/or galactose as part of the diet in everyday life may lead to an increase in blood lactate levels (=primary outcome), triglycerides, and uric acid to a certain degree compared to baseline. However, this increase is expected to remain within a range that is not clinically relevant for adult patients, especially when fructose/galactose intake is not excessive and stays within the usual daily allowances for healthy individuals, as planned in this study.
Interventions
DIETARY_SUPPLEMENTFructose
40g fructose (free and bound, max amount of fructose from added free sugar/saccharose 25g)
DIETARY_SUPPLEMENTFructose and galactose
10g galactose (mostly from lactose) plus 40g of fructose (free and bound, max amount of fructose from added free sugar/saccharose 25g)
Sponsors
Insel Gruppe AG, University Hospital Bern
University of Zurich
University Hospital Freiburg
University Hospital Heidelberg
Medical University Innsbruck
Study design
Allocation
RANDOMIZED
Intervention model
CROSSOVER
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* 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
Exclusion criteria
* 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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change in lactate during the dietary intervention compared to baseline under the usual diet | 4 Weeks | 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. |
Secondary
| Measure | Time frame |
|---|---|
| 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 |
Countries
Switzerland
Contacts
CONTACTMichel Hochuli, MD, PhD
PRINCIPAL_INVESTIGATORMichel Hochuli, MD, PhD
Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism
Outcome results
None listed