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Metabolic Consequences of Heterozygous Hereditary Fructose Intolerance

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ClinicalTrials.gov Identifier: NCT02979106
Recruitment Status : Completed
First Posted : December 1, 2016
Last Update Posted : July 17, 2019
Sponsor:
Information provided by (Responsible Party):
Luc Tappy, MD, University of Lausanne

Brief 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.


Condition or disease Intervention/treatment Phase
Hereditary Fructose Intolerance Fructose Metabolism, Inborn Errors Glucose Metabolism Disorders Other: Test meal Not Applicable

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 18 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Basic Science
Official Title: Are Heterozygous Carriers for Hereditary Fructose Intolerance Predisposed to Metabolic Disturbances When Exposed to Fructose?
Study Start Date : January 2015
Actual Primary Completion Date : January 2016
Actual Study Completion Date : November 2016


Arm Intervention/treatment
Experimental: oral fructose load
test meal calculated to provide 25% of basal energy requirement containing 13C-labeled fructose (0.35 g/kg), protein (0.21 g/kg) and lipid (0.22 g/kg).
Other: Test meal
Assessment of postprandial responses to a mixed meal containing fructose in carriers of one mutated ALDOB allele.




Primary Outcome Measures :
  1. Plasma glucose kinetics [ Time Frame: -120 min before ingestion of a test meal to 360 min after ingestion of a test meal ]
    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


Secondary Outcome Measures :
  1. Energy expenditure rate [ Time Frame: 120 min before ingestion of a test meal, and every 30 min until 360 min after ingestion of a test meal ]
    Energy expenditure is measured by indirect calorimetry in fasted and fed conditions

  2. Glucose oxidation rate [ Time Frame: 120 min before ingestion of a test meal, and every 30 min until 360 min after ingestion of a test meal ]
    glucose oxidation is measured by indirect calorimetry in fasted and fed conditions

  3. Plasma glucose concentration [ Time Frame: -120 min before ingestion of a test meal, and every 30 min until 360 min after ingestion of a test meal ]
    plasma glucose concentration measured by glucose oxidase

  4. plasma insulin concentration [ Time Frame: -120 min before ingestion of a test meal, and every 30 min until 360 min after ingestion of a test meal ]
    Plasma insulin concentration measured by ELISA

  5. Fructose oxidation [ Time Frame: Every 30 min until 360 min after ingestion of a test meal ]
    Fructose oxidation is measured from 13CO2 production



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Ages Eligible for Study:   18 Years to 65 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Criteria

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02979106


Sponsors and Collaborators
University of Lausanne
Investigators
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Study Director: Tappy Luc, MD University of Lausanne

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: Luc Tappy, MD, Professor, University of Lausanne
ClinicalTrials.gov Identifier: NCT02979106     History of Changes
Other Study ID Numbers: PB_2016-00289 (302/14)
First Posted: December 1, 2016    Key Record Dates
Last Update Posted: July 17, 2019
Last Verified: July 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Additional relevant MeSH terms:
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Metabolism, Inborn Errors
Fructose Intolerance
Fructose Metabolism, Inborn Errors
Metabolic Diseases
Glucose Metabolism Disorders
Genetic Diseases, Inborn
Carbohydrate Metabolism, Inborn Errors