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Energy Requirements in Mitochondrial Disease

This study has been completed.
Rare Disease Foundation, Vancouver, Canada
Information provided by (Responsible Party):
University of British Columbia Identifier:
First received: January 17, 2013
Last updated: May 29, 2015
Last verified: May 2015

Metabolic diseases and mitochondrial disorders are caused by genetic mutation which lead to disruptions in energy producing pathways in our body. Enough energy or calories must be given in the diet to ensure normal growth and development. Currently, energy needs for patients with metabolic and mitochondrial diseases are not measured, but is estimated using a mathematical equation based on healthy children. This may lead to under feeding or overfeeding of calories, and has negative nutritional implications.

The clinical standard for measuring energy needs is the use of indirect calorimeter.The indirect calorimeter takes individualized measurements for each patient and therefore will enable dietitians and clinicians to provide sufficient calories in the diet to better manage the disease and promote normal growth and development.

We believe daily energy requirements will vary within metabolic diseases (Phenylketonuria) and mitochondrial disorders (mitochondrial fatty acid oxidation defect, POLG1 mutation etc.).

The objective of this preliminary study is to measure resting energy expenditure in children living with metabolic and mitochondrial conditions and data obtained will be used to generate future hypothesis and will form a basis for future studies.

Mitochondrial Disease
Chronic Metabolic Disorder

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Cross-Sectional
Official Title: Energy Requirements in Metabolic and Mitochondrial Disease

Resource links provided by NLM:

Further study details as provided by University of British Columbia:

Primary Outcome Measures:
  • Resting Energy Expenditure [ Time Frame: 1 hour ]
    Resting Energy Expenditure will be measured by carbon dioxide production and oxygen consumption.

Enrollment: 23
Study Start Date: February 2012
Study Completion Date: September 2014
Primary Completion Date: June 2014 (Final data collection date for primary outcome measure)
Metabolic Disease- Phenylketonuria
Mitochondrial disorder


Ages Eligible for Study:   1 Year to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Children (1-18y) diagnosed with either phenylketonuria or a mitochondrial disorder

Inclusion Criteria:

  • Children(1-18y) who are diagnosed with either Phenylketonuria (PKU) or a mitochondrial disorder

Exclusion Criteria:

  • Children, less than 1y old, who are diagnosed with PKU or a mitochondrial disorder, as it is difficult to perform indirect calorimeter on them.
  • Children(1-18y) who are not diagnosed with PKU or a mitochondrial disorder
  • Children(1-18y) who are diagnosed with either PKU or a mitochondrial disorder, but are currently experiencing illness such as fever, cold, vomiting or diarrhea
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Please refer to this study by its identifier: NCT01776918

Canada, British Columbia
Child & Family Research Institute
Vancouver, British Columbia, Canada, V5Z4H4
Sponsors and Collaborators
University of British Columbia
Rare Disease Foundation, Vancouver, Canada
Principal Investigator: Rajavel Elango, PhD Child & Family Research Institute/University of British Columbia
Study Chair: Sylvia Stockler-Ipsiroglu University of British Columbia/Faculty of Pediatrics
Study Chair: Ramona Meni Salvarinova Zivkovic University of Bristish Columbia/Faculty of Pediatrics
Study Chair: Howard Parsons University of British Columbia/Faculty of Pediatrics
  More Information

Responsible Party: University of British Columbia Identifier: NCT01776918     History of Changes
Other Study ID Numbers: H11-02094
Study First Received: January 17, 2013
Last Updated: May 29, 2015

Keywords provided by University of British Columbia:
POLG1 Mutation

Additional relevant MeSH terms:
Metabolic Diseases
Mitochondrial Diseases processed this record on May 25, 2017