Energy Requirements in Mitochondrial Disease

NCT01776918 | Completed

• 1 other identifier: H11-02094
• Study Type: observational
• Target: 23
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Mitochondrial Disease; Chronic Metabolic Disorder

Keywords

POLG1 Mutation; Phenylketonuria

Outcome Measures

Primary Outcomes (1)

• Resting Energy Expenditure

  Resting Energy Expenditure will be measured by carbon dioxide production and oxygen consumption.

  1 hour

Study Arms (2)

Metabolic Disease- Phenylketonuria

Mitochondrial disorder

Eligibility Criteria

• Age: 1 Year - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

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

You may not qualify if:

• 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

Sponsors & Collaborators

• University of British Columbia: lead
• Rare Disease Foundation, Vancouver, Canada: collaborator

Study Sites (1)

Child & Family Research Institute

Vancouver, British Columbia, V5Z4H4, Canada

Location

MeSH Terms

Conditions

Mitochondrial Diseases; Phenylketonurias

Condition Hierarchy (Ancestors)

Metabolic Diseases; Nutritional and Metabolic Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Rajavel Elango, PhD

  Child & Family Research Institute/University of British Columbia

  PRINCIPAL INVESTIGATOR

• 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 CHAIR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principle Investigator

Study Record Dates

• First Submitted: January 17, 2013
• First Posted: January 28, 2013
• Study Start: February 1, 2012
• Primary Completion: June 1, 2014
• Study Completion: September 1, 2014
• Last Updated: July 18, 2017

Record last verified: 2017-07

Locations

CA (1)