Mitochondrial DiseaseNCT01776918
Energy Requirements in Mitochondrial Disease
An observational study of Mitochondrial Disease and Chronic Metabolic Disorder, run by University of British Columbia at 1 site in Canada.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 year to 18 years
- Conditions the study is for
- Mitochondrial Disease, Chronic Metabolic Disorder
- How many people
- 23 participants
- Where
- 1 siteCanada
- Study dates
- Feb 2012to Sep 2014
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Children (1-18y) diagnosed with either phenylketonuria or a mitochondrial disorder
Who may be able to join
- Children(1-18y) who are diagnosed with either Phenylketonuria (PKU) or a mitochondrial disorder
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
Canada1 site
Child & Family Research Institute
Vancouver, British Columbia, V5Z4H4
About this study
Official title: 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.
Read more
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
- Medical subject headings
- Mitochondrial Diseases, Phenylketonurias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Metabolic Disease- Phenylketonuria | Not described | |
| Mitochondrial disorder | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Resting Energy Expenditure
Resting Energy Expenditure will be measured by carbon dioxide production and oxygen consumption.
Measured: 1 hour
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Jan 2013 (estimated)
- Study startFeb 2012
- Primary completionJun 2014
- Study completionSep 2014
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mitochondrial DiseaseStudies of the same condition, open and under way.
- More trials run by University of British ColumbiaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 23 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of British Columbia
- Sponsor type
- University, hospital or other
- Collaborators
- Rare Disease Foundation, Vancouver, Canada
- Responsible party
- Principal investigator, Rajavel Elango, PhD, University of British Columbia
- Investigators
- Rajavel Elango, PhD, Principal investigator, Child & Family Research Institute/University of British ColumbiaSylvia Stockler-Ipsiroglu, Study chair, University of British Columbia/Faculty of PediatricsRamona Meni Salvarinova Zivkovic, Study chair, University of Bristish Columbia/Faculty of PediatricsHoward Parsons, Study chair, University of British Columbia/Faculty of Pediatrics
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01776918
- Sponsor's protocol ID
- H11-02094
- Status last verified
- Jul 2017
- First submitted
- 17 Jan 2013
- Last updated
- 18 Jul 2017
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 18 Jul 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Energy Requirements in Metabolic and Mitochondrial Disease
- ClinicalTrials.gov ID
- NCT01776918
- Acronym / sponsor ID
- H11-02094
- Conditions
- Mitochondrial Disease, Chronic Metabolic Disorder
- Keywords
- POLG1 Mutation, Phenylketonuria
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 23 participants (actual)
- Lead sponsor
- University of British ColumbiaUniversity, hospital or other
- Collaborators
- Rare Disease Foundation, Vancouver, Canada
- Study start
- Feb 2012
- Primary completion
- Jun 2014 (actual)
- Study completion
- Sep 2014 (actual)
- First posted
- 28 Jan 2013 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Metabolic Disease- Phenylketonuria | – | – |
| Mitochondrial disorder | – | – |
Who may qualify
- Ages
- 1 year to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Children (1-18y) diagnosed with either phenylketonuria or a mitochondrial disorder
Key inclusion criteria (1 listed)
- Children(1-18y) who are diagnosed with either Phenylketonuria (PKU) or a mitochondrial disorder
Key exclusion criteria (3 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Resting Energy Expenditure
Time frame: 1 hour
Resting Energy Expenditure will be measured by carbon dioxide production and oxygen consumption.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Jul 2017.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Rajavel Elango, PhD principal investigator
Child & Family Research Institute/University of British Columbia
Sylvia Stockler-Ipsiroglu study chair
University of British Columbia/Faculty of Pediatrics
Ramona Meni Salvarinova Zivkovic study chair
University of Bristish Columbia/Faculty of Pediatrics
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Mitochondrial Disease and Chronic Metabolic Disorder, run by University of British Columbia at 1 site in Canada.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 18 Jul 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Canada. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Resting Energy Expenditure (time frame: 1 hour). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Jul 2017.