Energy Requirements in Mitochondrial Disease

NCT ID: NCT01776918

Last Updated: 2017-07-18

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 23 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2012-02-29
• Study Completion Date: 2014-09-30

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

Study Design

• Observational Model Type: CASE_ONLY
• Study Time Perspective: CROSS_SECTIONAL

Study Groups

Metabolic Disease- Phenylketonuria

No interventions assigned to this group

Mitochondrial disorder

No interventions assigned to this group

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

• Minimum Eligible Age: 1 Year
• Maximum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Rare Disease Foundation, Vancouver, Canada

OTHER

Sponsor Role: collaborator

University of British Columbia

OTHER

Sponsor Role: lead

Responsible Party

Rajavel Elango, PhD

Principle Investigator

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Rajavel Elango, PhD

Role: PRINCIPAL_INVESTIGATOR

Child & Family Research Institute/University of British Columbia

Sylvia Stockler-Ipsiroglu

Role: STUDY_CHAIR

University of British Columbia/Faculty of Pediatrics

Ramona Meni Salvarinova Zivkovic

Role: STUDY_CHAIR

University of Bristish Columbia/Faculty of Pediatrics

Howard Parsons

Role: STUDY_CHAIR

University of British Columbia/Faculty of Pediatrics

Locations

Child & Family Research Institute

Vancouver, British Columbia, Canada

Countries

Canada

Other Identifiers

H11-02094

Identifier Type: -

Identifier Source: org_study_id