Energy Requirements in Mitochondrial Disease

July 13, 2017 updated by: Rajavel Elango, PhD, University of British Columbia

Energy Requirements in Metabolic and Mitochondrial Disease

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.

Study Overview

Status

Completed

Conditions

Study Type

Observational

Enrollment (Actual)

23

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Canada
    • British Columbia
      • Vancouver, British Columbia, Canada, V5Z4H4
        • Child & Family Research Institute

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

1 year to 18 years (Child, Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Children (1-18y) diagnosed with either phenylketonuria or a mitochondrial disorder

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Metabolic Disease- Phenylketonuria
Mitochondrial disorder

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Resting Energy Expenditure
Time Frame: 1 hour
Resting Energy Expenditure will be measured by carbon dioxide production and oxygen consumption.
1 hour

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of British Columbia

Collaborators

Rare Disease Foundation, Vancouver, Canada

Investigators

  • 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

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

February 1, 2012

Primary Completion (Actual)

June 1, 2014

Study Completion (Actual)

September 1, 2014

Study Registration Dates

First Submitted

January 17, 2013

First Submitted That Met QC Criteria

January 25, 2013

First Posted (Estimate)

January 28, 2013

Study Record Updates

Last Update Posted (Actual)

July 18, 2017

Last Update Submitted That Met QC Criteria

July 13, 2017

Last Verified

July 1, 2017

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • H11-02094

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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