Energy Requirements in 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.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Mitochondrial Disease Amino Acid Metabolism, Inborn Errors Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Chronic Metabolic Disorder Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Metabolic Diseases Metabolism, Inborn Errors Mitochondrial Diseases Nervous System Diseases Nutritional and Metabolic Diseases Phenylketonurias

Age range

1 year–18 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Child & Family Research Institute

Vancouver, British Columbia, V5Z4H4, Canada

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

Resting Energy Expenditure

Time frame: 1 hour

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

Sponsors and collaborators

Lead sponsor

University of British Columbia

Other

Collaborators

Rare Disease Foundation, Vancouver, Canada

Registry information

Official study title

Energy Requirements in Metabolic and Mitochondrial Disease

Important dates

Study start: 2012
Primary completion: 2014
Study completion: 2014
First posted: Jan 28, 2013
Registry last updated: Jul 18, 2017

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed