Clinical trial NCT01776918: Energy Requirements in Mitochondrial Disease
Official title: Energy Requirements in Metabolic and Mitochondrial Disease
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Mitochondrial Disease
Chronic Metabolic Disorder
Keywords: POLG1 Mutation
Phenylketonuria
Lead sponsor: University of British Columbia
Sponsor class: OTHER
Collaborators: name: Rare Disease Foundation, Vancouver, Canada
First posted: 2013-01-28
Enrollment: 23
Sex: ALL
Minimum age (years): 1
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Children (1-18y) diagnosed with either phenylketonuria or a mitochondrial disorder

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.


Eligibility criteria: 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

Primary outcomes:
measure: Resting Energy Expenditure
timeFrame: 1 hour
Secondary outcomes:
Other outcomes:
Locations:
city: Vancouver
country: Canada
facility: Child & Family Research Institute
state: British Columbia
Study officials:
affiliation: Child & Family Research Institute/University of British Columbia
name: Rajavel Elango, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: University of British Columbia/Faculty of Pediatrics
name: Sylvia Stockler-Ipsiroglu
role: STUDY_CHAIR
affiliation: University of Bristish Columbia/Faculty of Pediatrics
name: Ramona Meni Salvarinova Zivkovic
role: STUDY_CHAIR
affiliation: University of British Columbia/Faculty of Pediatrics
name: Howard Parsons
role: STUDY_CHAIR
References: