Phenylketonuria (PKU)NCT02009904
Simple Breath Test to Examine Phenylalanine Metabolism
An observational study of Phenylketonuria (PKU), run by University of British Columbia at 1 site in Canada.
Trial summary
Phenylketonuria(PKU)is a rare condition caused by the body's inability to properly breakdown an amino acid called phenylalanine(PHE), due to a missing enzyme, phenylalanine hydroxylase(PAH). When the enzyme is missing and/or not functioning properly, it increases the level of PHE in the body. Read more about this study
- Who is it for?
- Ages 5 to 18 yearsHealthy volunteers can take part
- Conditions the study is for
- Phenylketonuria (PKU)
- How many people
- 20 participants
- Where
- 1 siteCanada
- Study dates
- Jan 2013to Sep 2016
- 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 5 to 18 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
Study population: Children with PKU will be enrolled from the Biochemical Diseases clinic at the British Columbia Children's Hospital. Healthy controls will be enrolled from the community and will undergo screening for age and gender match.
Who may be able to join
- Study Subjects:
- Children (4-18y)diagnosed with PKU
- Parent(s) or guardian(s) willing and able to provide informed signed consent.
- Parent(s) or guardian(s) willing and able to comply with all study procedures
- Healthy controls:
- Healthy Children (4-18y) with no health condition
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- Willing to go through an initial screening for age and gender match
- Parents or guardians willing and able to provide informed signed consent.
- Parents or guardians willing and able to comply with study procedures
Who cannot join
- Study Subjects:
- Children < 4y of age diagnosed with PKU, as it may be challenging to collect breath samples and perform indirect calorimeter in very young children
- Children (4-18y)who are diagnosed with PKU, but are currently ill, with a fever, cold, vomiting or diarrhea
- Healthy controls:
- Healthy Children < 4y of age , as it may be challenging to collect breath samples and perform indirect calorimeter in very young children.
- Healthy Children (4-18y), but are currently ill, with a fever, cold, vomiting or diarrhea.
Trial locations and contacts
1 site in 1 country.
Canada1 site
Child & Family Research Institute
Vancouver, British Columbia, V5Z 4H4
About this study
Official title: Use of a Simple Breath Test to Examine Phenylalanine Metabolism in Children With Phenylketonuria (PKU)
Phenylketonuria(PKU)is a rare condition caused by the body's inability to properly breakdown an amino acid called phenylalanine(PHE), due to a missing enzyme, phenylalanine hydroxylase(PAH). When the enzyme is missing and/or not functioning properly, it increases the level of PHE in the body. High levels of PHE can cause severe brain damage or nerve damage unless the children are on a strict low PHE diet. A low PHE diet restricts the intake of protein rich foods and can pose a significant burden to both the patient and the family.
Investigators at the University of British Columbia and British Columbia Children's Hospital will examine the phenylalanine metabolism in children with PKU using a simple breath test.
Read more
Patients (5-18y) receiving standard clinical care at the BC Children's Hospital's Biochemical Diseases Clinic will be enrolled.The study will be conducted twice on each patient. Baseline measurements will be performed at the beginning of each study for each patient.The Physician in charge will then prescribe the standard dose of sapropterin dihydrochloride (Kuvan®) (20mg/kg/d) or otherwise as deemed appropriate by the physician-in-charge. The test will be repeated a week (minimum) after the beginning of treatment with the prescribed dose.
The investigators propose that children who are responsive to sapropterin dihydrochloride (Kuvan®) will have increased 13CO2 in breath after treatment, and those who do not respond will have no change in the 13CO2 in the breath before and after treatment.
As a comparison to the experimental group, age and gender matched healthy controls will also be studied. The test in healthy controls will be performed once without any intervention, and is only used as a comparative value.
- Conditions
- Phenylketonuria (PKU)
- Keywords
- PKU, Phenylketonuria, Phenylalanine, Children, Stable isotopes, Sapropterin dihydrochloride responsiveness
- Medical subject headings
- 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 |
|---|---|---|
| Phenylketonuria (PKU); Healthy Controls | Children with PKU (5-18y); Age and Gender matched healthy subjects for comparison |
What is being measured
The primary outcome is the main question the study is designed to answer.
13C (carbon dioxide) production
Breath samples are collected to measure 13C (carbon dioxide) production. Rate of carbon dioxide produced is measured at 60 minutes after the start of the study using an indirect calorimeter.
Measured: 2 hours (1 study day)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Dec 2013 (estimated)
- Study startJan 2013
- Primary completionSep 2016
- Study completionSep 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Phenylketonuria (PKU)Studies 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-control
- Time perspective
- Prospective
- Enrolment
- 20 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, Ph.D, Principal investigator, University of British Columbia
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02009904
- Sponsor's protocol ID
- H12-01421
- Status last verified
- Sep 2020
- First submitted
- 9 Dec 2013
- Last updated
- 24 Sep 2020
- Results posted
- No
- Data monitoring committee
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 24 Sep 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Use of a Simple Breath Test to Examine Phenylalanine Metabolism in Children With Phenylketonuria (PKU)
- ClinicalTrials.gov ID
- NCT02009904
- Acronym / sponsor ID
- H12-01421
- Conditions
- Phenylketonuria (PKU)
- Keywords
- PKU, Phenylketonuria, Phenylalanine, Children, Stable isotopes, Sapropterin dihydrochloride responsiveness
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 20 participants (actual)
- Lead sponsor
- University of British ColumbiaUniversity, hospital or other
- Collaborators
- Rare Disease Foundation, Vancouver, Canada
- Study start
- Jan 2013
- Primary completion
- Sep 2016 (actual)
- Study completion
- Sep 2016 (actual)
- First posted
- 12 Dec 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.
Phenylketonuria(PKU)is a rare condition caused by the body's inability to properly breakdown an amino acid called phenylalanine(PHE), due to a missing enzyme, phenylalanine hydroxylase(PAH). When the enzyme is missing and/or not functioning properly, it increases the level of PHE in the body. High levels of PHE can cause severe brain damage or nerve damage unless the children are on a strict low PHE diet. A low PHE diet restricts the intake of protein rich foods and can pose a significant burden to both the patient and the family.
Investigators at the University of British Columbia and British Columbia Children's Hospital will examine the phenylalanine metabolism in children with PKU using a simple breath test.
Patients (5-18y) receiving standard clinical care at the BC Children's Hospital's Biochemical Diseases Clinic will be enrolled.The study will be conducted twice on each patient. Baseline measurements will be performed at the beginning of each study for each patient.The Physician in charge will then prescribe the standard dose of sapropterin dihydrochloride (Kuvan®) (20mg/kg/d) or otherwise as deemed appropriate by the physician-in-charge. The test will be repeated a week (minimum) after the beginning of treatment with the prescribed dose.
The investigators propose that children who are responsive to sapropterin dihydrochloride (Kuvan®) will have increased 13CO2 in breath after treatment, and those who do not respond will have no change in the 13CO2 in the breath before and after treatment.
As a comparison to the experimental group, age and gender matched healthy controls will also be studied. The test in healthy controls will be performed once without any intervention, and is only used as a comparative value.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Phenylketonuria (PKU); Healthy Controls | – | –Children with PKU (5-18y); Age and Gender matched healthy subjects for comparison |
Who may qualify
- Ages
- 5 to 18 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- Study population
- Children with PKU will be enrolled from the Biochemical Diseases clinic at the British Columbia Children's Hospital. Healthy controls will be enrolled from the community and will undergo screening for age and gender match.
Key inclusion criteria (9 listed)
- Children (4-18y)diagnosed with PKU
- Parent(s) or guardian(s) willing and able to provide informed signed consent.
- Parent(s) or guardian(s) willing and able to comply with all study procedures
- Healthy Children (4-18y) with no health condition
- Willing to go through an initial screening for age and gender match
Key exclusion criteria (6 listed)
- Children < 4y of age diagnosed with PKU, as it may be challenging to collect breath samples and perform indirect calorimeter in very young children
- Children (4-18y)who are diagnosed with PKU, but are currently ill, with a fever, cold, vomiting or diarrhea
- Healthy Children < 4y of age , as it may be challenging to collect breath samples and perform indirect calorimeter in very young children.
- Healthy Children (4-18y), but are currently ill, with a 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
13C (carbon dioxide) production
Time frame: 2 hours (1 study day)
Breath samples are collected to measure 13C (carbon dioxide) production. Rate of carbon dioxide produced is measured at 60 minutes after the start of the study using an indirect calorimeter.
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 24 Sep 2020.
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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, Ph.D principal investigator
University of British Columbia
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 Phenylketonuria (PKU), 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 9 inclusion and 6 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 24 Sep 2020. 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?
13C (carbon dioxide) production (time frame: 2 hours (1 study day)). 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 24 Sep 2020.