Metabolic Consequences of Heterozygous Hereditary Fructose Intolerance

Glucose Metabolism Disorders Clinical Trial

Official title:

Are Heterozygous Carriers for Hereditary Fructose Intolerance Predisposed to Metabolic Disturbances When Exposed to Fructose?

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02979106
• Other study ID #: PB_2016-00289 (302/14)
• Status: Completed
• Phase: N/A
• Start date: January 2015
• Est. completion date: November 2016

Study information

• Verified date: July 2019
• Source: University of Lausanne
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

Background: High fructose intake increases blood lactate, triglyceride and uric acid concentrations. Uric acid may contribute to insulin resistance and dyslipidemia in the general population. In patients with hereditary fructose intolerance fructose consumption is associated with acute hypoglycemia, renal tubular acidosis, and hyperuricemia.

Objective: We investigated whether asymptomatic carriers for hereditary fructose intolerance (HFI) would have a higher sensitivity to adverse effects of fructose than the general population.

Design: Eight subjects heterozygous for HFI (hHFI; 4 males, 4 females) and eight controls received for 7 days a low fructose diet and on the eighth day ingested a test meal calculated to provide 25% of basal energy requirement containing labeled fructose (13C fructose 0.35 g/kg), protein (0.21 g/kg) and lipid (0.22 g/kg). Total fructose oxidation, total endogenous glucose production (by 6,6-2H2-glucose dilution), carbohydrate and lipid oxidation, lipids, uric acid, lactate, creatinine, urea and amino acids were monitored for 6 hours.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 18
• Est. completion date: November 2016
• Est. primary completion date: January 2016
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years to 65 Years

Eligibility

Inclusion Criteria:

• 8 healthy Volunteers (4 male, 4 female) parents of a child with hereditary fructose intolerance with ALDOB with heterozygous mutation of ALDOB gene

• 8 healthy Volunteers (4 male, 4 female), healthy with no mutation of ALDOB gene

Exclusion Criteria:

• Fasting glycemia > 7.0 mmol/L

• Fasting total triglycerides > 4.0 mmol/L

• Chronic renal insufficiency (eGFR = 50 ml/min)

• Anemia (ferritin < 20 ug/L, hemoglobin < 13.5 ou 12.5 g/dl)

• Drugs

• Pregnancy

Related Conditions & MeSH terms

• Fructose Intolerance
• Fructose Metabolism, Inborn Errors
• Glucose Metabolism Disorders
• Hereditary Fructose Intolerance
• Metabolic Diseases
• Metabolism, Inborn Errors

Intervention

Other:
• Test meal
Assessment of postprandial responses to a mixed meal containing fructose in carriers of one mutated ALDOB allele.

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
University of Lausanne

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Plasma glucose kinetics	Modelling of rate of glucose appearance after administration of a bolus of 6,6-2H2 glucose (bolus, 2 mg/kg and continuous infusion, 0.02 mg/kg/min) will be measured in fasted and fed conditions	-120 min before ingestion of a test meal to 360 min after ingestion of a test meal
Secondary	Energy expenditure rate	Energy expenditure is measured by indirect calorimetry in fasted and fed conditions	120 min before ingestion of a test meal, and every 30 min until 360 min after ingestion of a test meal
Secondary	Glucose oxidation rate	glucose oxidation is measured by indirect calorimetry in fasted and fed conditions	120 min before ingestion of a test meal, and every 30 min until 360 min after ingestion of a test meal
Secondary	Plasma glucose concentration	plasma glucose concentration measured by glucose oxidase	-120 min before ingestion of a test meal, and every 30 min until 360 min after ingestion of a test meal
Secondary	plasma insulin concentration	Plasma insulin concentration measured by ELISA	-120 min before ingestion of a test meal, and every 30 min until 360 min after ingestion of a test meal
Secondary	Fructose oxidation	Fructose oxidation is measured from 13CO2 production	Every 30 min until 360 min after ingestion of a test meal