Phenylketonuria (PKU)NCT03309345
Body Composition, Energy Intake and Expenditure in People With Phenylketonuria
An observational study of Phenylketonuria (PKU), run by University of Glasgow at 1 site in United Kingdom.
Trial summary
This will be case-control study investigating whether dietary intake and components of energy expenditure such as Basal metabolic rate (BMR), physical activity energy expenditure (PAEE) and diet induce thermogenesis (DIT) are different between people with phenylketonuria (PKU) and matched healthy controls. Read more about this study
- Who is it for?
- Ages 10 to 45 yearsHealthy volunteers can take part
- Conditions the study is for
- Phenylketonuria (PKU)
- How many people
- 26 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- 20 Jan 2017to 20 Jan 2019
- 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 10 to 45 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
Study population: Eligible patients will be identified from the clinical appointment lists held by the medical team of the metabolic medicine clinics in NHS GGC. A member of the treatment team (Mrs Barbara Cochrane or other members of the primary management clinical teams) will send an introductory letter about the study and the study information leaflet to those participants who are eligible to participate. This will give adequate time for the participants and their carers to consider the study prior to their subsequent clinical appointment. To increase recruitment rate, the researchers will present the study at the PKU group sessions, cooking and social events that are organised by the local clinical team Controls will be recruited by means of poster advertisement and by university's email-broadcasting and word of mouth in the campus of the University of Glasgow, and other public areas (libraries, train/bus stations).
Who may be able to join
- Children and adults with PKU between 10 to 45 years old
- Free from history of any acute and chronic illness (other than PKU)
Who cannot join
- Patients with learning or mobility disabilities
- Patients who are deemed not competent to provide informed consent as judged by the clinical staff
- Pregnant or lactating women
- Participants who are not able to read, comprehend or communicate in English
Trial locations and contacts
1 site in 1 country.
United Kingdom1 site, 1 recruiting
- Recruiting
University of Glasgow
Glasgow, Scotland, G31 2ER
Nouf Alghamdi, BSc,MSc, +447437450063, n.alghamdi.1@research.gla.ac.uk
Hani Alfheeaid, BSc,MSc, +447533260555, h.alfheeaid.1@research.gla.ac.uk
About this study
Official title: - Contribution of Diet Induced Thermogenesis (DIT) and Fat Oxidation to Body Fatness and Body Composition of Patients With Phenylketonuria - Contribution of Physical Activity Energy Expenditure and Energy Intake to Body Fatness and Body Composition of Patients With Phenylketonuria
This will be case-control study investigating whether dietary intake and components of energy expenditure such as Basal metabolic rate (BMR), physical activity energy expenditure (PAEE) and diet induce thermogenesis (DIT) are different between people with phenylketonuria (PKU) and matched healthy controls. Participants will be children and adults with PKU age between 10 to 45 years old, free from history of any acute and chronic illness. Participants will attend the Metabolic Research Unit at New Lister Building (NLB) after 12-hour overnight fasting refraining from alcohol consumption for at least 24 hours. Any planned exercise will be avoided during the 48 hours prior visit to the Metabolic Research Unit. Height, body weight and handgrip strength will be measured upon arrival at the unit. BMR will be assessed and participants will be asked to provide baseline saliva sample followed by consumption of 8 g deuterium water (D2O) diluted in drinking water. Normal or PKU-type isocaloric breakfast meal will then be provided based on intervention group-type. DIT will be measured 5 times for 3 hours, with each measurement lasting for 20 minutes. Two saliva samples will be collected at 3 and 3.5 hours after ingestion of D2O. Participants will be asked to perform an incremental intensity exercise test for 20 minutes on the treadmill during which expired air will be collected and accelerometer counts and heart rate will be measured. Participants will then be trained on how to recorded food intake and how to use accelerometers for habitual physical activity measurements. PKU participants (and their parents if ≤15 years old) will be asked to complete quality of life (QoL) questionnaires. Participants will be required to wear the accelerometer equipment for seven consecutive days excluding bedtime and keep a record of non-wear times. During these days, they will also prospectively record estimated food and beverages intake over four days including one weekend day.
Read the detailed description
- Anthropometric measurements: Height will be measured using a wall-mounted stadiometer to the nearest 0.01 meter. Body mass will be measured in kilograms using balance scale. Body mass index (BMI) will be calculated using the following formula: BMI = kg/m² [weight in kilograms/ height in meters²].
- Handgrip strength (kilograms): Grip strength will be measured by using a handgrip dynamometer as a measure of strength and physical capacity.
- Body composition determination, saliva samples collection, storage and analysis: Body composition will be determined using the deuterium water (D2O) dilution technique. Participants will be provided a dose of 8 g of D2O diluted in drinking water. Participants will be asked to provide a baseline saliva samples and another samples will be obtained at 3 and 3.5 hrs after ingestion of the D2O. Samples will be stored in freezers at -20 °C. All samples will be analysed at Scottish Universities Environmental Research Centre (SUERC), Glasgow, for measurements of total body water (TBW) by means of Fourier Transform Infrared Spectrometry (FTIR).
- Metabolic rate measurement: Metabolic rate will be measured by means of computerised open-circuit ventilated hood system (Quark, Resting metabolic rate (RMR) ®, Italy). Rate of oxygen consumption (O2) and carbon dioxide production (CO2) will be recorded every 30 seconds for total duration of 20 minutes with 10 minute break.
- Breakfast meal: Participants in phenylketonuria (PKU) group will receive a breakfast based on PKU-type foods. Participants in control group will receive a similar breakfast based on normal foods with calories content and weight being matched between the groups.
- Measurements of physical activity (PA) and physical activity energy expenditure (PAEE): ActiGraph accelerometer (GT3X+®) will be used to measure and record acceleration of participant's physical activity. The participants will have to wear them for seven consecutive days. They should record the time they put the monitor on in the morning and when taking it off in the evening in their activity diaries. They also have to keep notes of time and reason if they take the monitor off during the day. Individual calibration curves for counts against rate of O2 and rate of CO2 will be established during rest, and continuous incremental exercise test on the treadmill. Each participant will conduct walking/ running test with starting speed of 2 km/h being increased by 1 km/h every 4 minutes. The test will be stopped when heart rate (HR) just reaches 80 % of maximal heart rate (HRmax) defined as 220 - age. During this incremental test, participants will wear both ActiGraph accelerometer and face mask connected to indirect calorimetry equipment (Quark RMR®, Italy) to measure rate of O2 and rate of CO2.
- Dietary analyses: Participants will record their food intake by food portion size estimation method. Participants will be asked to record their intake for four days including one weekend day. Data from food diaries will be compared to reference UK photographic atlas of food portion sizes to estimate weight of food intake. Food and energy intake will then be calculated using computerised program.
- Quality of life assessment: PKU participants' quality of life will be assessed by means of validated PKU-specific Health-related Quality of Life Questionnaires (PKU-QOL). The questionnaires cover the physical, emotional, and social impacts of PKU and its treatment on patients' lives and come along with a software to calculate PKU-QoL scores.
- Clinical data on history of disease activity:
Information about disease management relevant to the study (i.e. records of phenylalanine levels, weight and height status, and number of protein exchanges and dietary compliance, quantity and types of prescribed PKU foods and amino acid supplements) will be collected from the patients' medical notes. The data will be obtained for one year prior to the participants' intended day of study start.
- Conditions
- Phenylketonuria (PKU)
- Being tested
- No intervention
- Medical subject headings
- Phenylketonurias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No interventionOther
No intervention as this is an observational study investigates the difference between PKU ant matched healthy control in terms of energy components and dietary intake
| Study group | Role | What they receive |
|---|---|---|
| Case group, PKU group | Children and adults (10 - 45 years old) with PKU attending the metabolic medicine clinics in the area of National Health Services (NHS) Greater Glasgow and Clyde (GGC) will be approached for recruitment. Participants will be free from history of acute and chronic illness (other than PKU) requiring regular appointments to the doctor and/or chronic use of medication or major gastrointestinal surgery where major part of the gut has been resected as these conditions are known to impact on energy expenditure and dietary intake. Pregnant or lactating women will also be excluded from participation. People with learning or mobility difficulties or those with incapacity to provide informed consent will be excluded too. The clinical treatment team will evaluate patients' capacity to consent before considering them to participate in the study. Receives: Other: No intervention | |
| Control group, healthy control | Gender, BMI and age matched healthy people will be recruited as a control group. Pregnant or lactating women will be excluded from participation. Those with any chronic illnesses or bone injuries will also be excluded. Receives: Other: No intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
Basal metabolic rate (BMR)
BMR by means of computerised open-circuit ventilated hood system (Quark RMR®, Italy).
Measured: 14 months
Diet induce thermogenesis (DIT)
DIT will be measured by means of computerised open-circuit ventilated hood system (Quark RMR®, Italy).
Measured: 14 months
Physical activity energy expenditure (PAEE)
PAEE will be calculated during rest, and continuous incremental exercise by establishing an individual calibration curves for counts accelerometer against rate of oxygen (O2) and rate of carbon dioxide (CO2).
Measured: 14 months
Energy and macro-nutrient intake
Participants will be asked to estimate their food intake using household measures or natural unit sizes (e.g. slices of bread) and to record their intake for four days including one weekend day.
Data from food diaries will be compared to reference UK photographic atlas of food portion sizes to estimate weight of food intake. Food and energy intake will then be calculated using the dietary software 2010 (The Robert Gordon University, Aberdeen, Scotland, UK).
Measured: 14 months
Secondary outcomes (3)
Body composition
Will be determined using the deuterium water (D2O) dilution technique
Measured: 14 months
Quality of life assessment
PKU participants' quality of life will be assessed by means of validated PKU-specific Health related Quality of Life Questionnaires (PKU-QOL)
Measured: 14 months
Hand-grip strength
Grip strength will be measured by using a hand-grip dynamometer as a measure of strength and physical capacity
Measured: 14 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Oct 2017
- Study start20 Jan 2017
- Primary completion20 Jan 2019 (estimated)
- Study completion20 Jan 2019 (estimated)
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.
- 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
- Cross-sectional
- Enrolment
- 26 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Glasgow
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Dr Konstantinos Gerasimidis, University of Glasgow
- Investigators
- Dalia Malkova, BSc,MSc,PhD, Study director, University of GlasgowKonstantinos Gerasimidis, PhD,MSc,APHNutr, Principal investigator, University of GlasgowBarbara Cochrane, BSc,MSc, Study director, Queen Elizabeth University HospitalSarah Adam, BSc,PGC, Study director, Glasgow Royal Infirmary HospitalPeter Galloway, Med,MB CHB,DCH,FRCP,FRCPath, Study director, Glasgow Royal Infirmary Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03309345
- Sponsor's protocol ID
- R&D:GN16ME448P, REC:16/SW/0288
- Status last verified
- Oct 2017
- First submitted
- 23 Jun 2017
- Last updated
- 13 Oct 2017
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 13 Oct 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- - Contribution of Diet Induced Thermogenesis (DIT) and Fat Oxidation to Body Fatness and Body Composition of Patients With Phenylketonuria - Contribution of Physical Activity Energy Expenditure and Energy Intake to Body Fatness and Body Composition of Patients With Phenylketonuria
- ClinicalTrials.gov ID
- NCT03309345
- Acronym / sponsor ID
- R&D:GN16ME448P, REC:16/SW/0288
- Conditions
- Phenylketonuria (PKU)
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 26 participants (estimated)
- Lead sponsor
- University of GlasgowUniversity, hospital or other
- Study start
- 20 Jan 2017 (actual)
- Primary completion
- 20 Jan 2019 (estimated)
- Study completion
- 20 Jan 2019 (estimated)
- First posted
- 13 Oct 2017 (actual)
- 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.
This will be case-control study investigating whether dietary intake and components of energy expenditure such as Basal metabolic rate (BMR), physical activity energy expenditure (PAEE) and diet induce thermogenesis (DIT) are different between people with phenylketonuria (PKU) and matched healthy controls. Participants will be children and adults with PKU age between 10 to 45 years old, free from history of any acute and chronic illness. Participants will attend the Metabolic Research Unit at New Lister Building (NLB) after 12-hour overnight fasting refraining from alcohol consumption for at least 24 hours. Any planned exercise will be avoided during the 48 hours prior visit to the Metabolic Research Unit. Height, body weight and handgrip strength will be measured upon arrival at the unit. BMR will be assessed and participants will be asked to provide baseline saliva sample followed by consumption of 8 g deuterium water (D2O) diluted in drinking water. Normal or PKU-type isocaloric breakfast meal will then be provided based on intervention group-type. DIT will be measured 5 times for 3 hours, with each measurement lasting for 20 minutes. Two saliva samples will be collected at 3 and 3.5 hours after ingestion of D2O. Participants will be asked to perform an incremental intensity exercise test for 20 minutes on the treadmill during which expired air will be collected and accelerometer counts and heart rate will be measured. Participants will then be trained on how to recorded food intake and how to use accelerometers for habitual physical activity measurements. PKU participants (and their parents if ≤15 years old) will be asked to complete quality of life (QoL) questionnaires. Participants will be required to wear the accelerometer equipment for seven consecutive days excluding bedtime and keep a record of non-wear times. During these days, they will also prospectively record estimated food and beverages intake over four days including one weekend day.
Detailed description
- Anthropometric measurements: Height will be measured using a wall-mounted stadiometer to the nearest 0.01 meter. Body mass will be measured in kilograms using balance scale. Body mass index (BMI) will be calculated using the following formula: BMI = kg/m² [weight in kilograms/ height in meters²].
- Handgrip strength (kilograms): Grip strength will be measured by using a handgrip dynamometer as a measure of strength and physical capacity.
- Body composition determination, saliva samples collection, storage and analysis: Body composition will be determined using the deuterium water (D2O) dilution technique. Participants will be provided a dose of 8 g of D2O diluted in drinking water. Participants will be asked to provide a baseline saliva samples and another samples will be obtained at 3 and 3.5 hrs after ingestion of the D2O. Samples will be stored in freezers at -20 °C. All samples will be analysed at Scottish Universities Environmental Research Centre (SUERC), Glasgow, for measurements of total body water (TBW) by means of Fourier Transform Infrared Spectrometry (FTIR).
- Metabolic rate measurement: Metabolic rate will be measured by means of computerised open-circuit ventilated hood system (Quark, Resting metabolic rate (RMR) ®, Italy). Rate of oxygen consumption (O2) and carbon dioxide production (CO2) will be recorded every 30 seconds for total duration of 20 minutes with 10 minute break.
- Breakfast meal: Participants in phenylketonuria (PKU) group will receive a breakfast based on PKU-type foods. Participants in control group will receive a similar breakfast based on normal foods with calories content and weight being matched between the groups.
- Measurements of physical activity (PA) and physical activity energy expenditure (PAEE): ActiGraph accelerometer (GT3X+®) will be used to measure and record acceleration of participant's physical activity. The participants will have to wear them for seven consecutive days. They should record the time they put the monitor on in the morning and when taking it off in the evening in their activity diaries. They also have to keep notes of time and reason if they take the monitor off during the day. Individual calibration curves for counts against rate of O2 and rate of CO2 will be established during rest, and continuous incremental exercise test on the treadmill. Each participant will conduct walking/ running test with starting speed of 2 km/h being increased by 1 km/h every 4 minutes. The test will be stopped when heart rate (HR) just reaches 80 % of maximal heart rate (HRmax) defined as 220 - age. During this incremental test, participants will wear both ActiGraph accelerometer and face mask connected to indirect calorimetry equipment (Quark RMR®, Italy) to measure rate of O2 and rate of CO2.
- Dietary analyses: Participants will record their food intake by food portion size estimation method. Participants will be asked to record their intake for four days including one weekend day. Data from food diaries will be compared to reference UK photographic atlas of food portion sizes to estimate weight of food intake. Food and energy intake will then be calculated using computerised program.
- Quality of life assessment: PKU participants' quality of life will be assessed by means of validated PKU-specific Health-related Quality of Life Questionnaires (PKU-QOL). The questionnaires cover the physical, emotional, and social impacts of PKU and its treatment on patients' lives and come along with a software to calculate PKU-QoL scores.
- Clinical data on history of disease activity:
Information about disease management relevant to the study (i.e. records of phenylalanine levels, weight and height status, and number of protein exchanges and dietary compliance, quantity and types of prescribed PKU foods and amino acid supplements) will be collected from the patients' medical notes. The data will be obtained for one year prior to the participants' intended day of study start.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Case group, PKU group | – | Other: No interventionChildren and adults (10 - 45 years old) with PKU attending the metabolic medicine clinics in the area of National Health Services (NHS) Greater Glasgow and Clyde (GGC) will be approached for recruitment. Participants will be free from history of acute and chronic illness (other than PKU) requiring regular appointments to the doctor and/or chronic use of medication or major gastrointestinal surgery where major part of the gut has been resected as these conditions are known to impact on energy expenditure and dietary intake. Pregnant or lactating women will also be excluded from participation. People with learning or mobility difficulties or those with incapacity to provide informed consent will be excluded too. The clinical treatment team will evaluate patients' capacity to consent before considering them to participate in the study. |
| Control group, healthy control | – | Other: No interventionGender, BMI and age matched healthy people will be recruited as a control group. Pregnant or lactating women will be excluded from participation. Those with any chronic illnesses or bone injuries will also be excluded. |
Who may qualify
- Ages
- 10 to 45 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- Study population
- Eligible patients will be identified from the clinical appointment lists held by the medical team of the metabolic medicine clinics in NHS GGC. A member of the treatment team (Mrs Barbara Cochrane or other members of the primary management clinical teams) will send an introductory letter about the study and the study information leaflet to those participants who are eligible to participate. This will give adequate time for the participants and their carers to consider the study prior to their subsequent clinical appointment. To increase recruitment rate, the researchers will present the study at the PKU group sessions, cooking and social events that are organised by the local clinical team Controls will be recruited by means of poster advertisement and by university's email-broadcasting and word of mouth in the campus of the University of Glasgow, and other public areas (libraries, train/bus stations).
Key inclusion criteria (2 listed)
- Children and adults with PKU between 10 to 45 years old
- Free from history of any acute and chronic illness (other than PKU)
Key exclusion criteria (4 listed)
- Patients with learning or mobility disabilities
- Patients who are deemed not competent to provide informed consent as judged by the clinical staff
- Pregnant or lactating women
- Participants who are not able to read, comprehend or communicate in English
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No interventionNo intervention as this is an observational study investigates the difference between PKU ant matched healthy control in terms of energy components and dietary intake | Other | Case group, PKU group, Control group, healthy control |
Primary outcome
Basal metabolic rate (BMR)
Time frame: 14 months
BMR by means of computerised open-circuit ventilated hood system (Quark RMR®, Italy).
Diet induce thermogenesis (DIT)
Time frame: 14 months
DIT will be measured by means of computerised open-circuit ventilated hood system (Quark RMR®, Italy).
Physical activity energy expenditure (PAEE)
Time frame: 14 months
PAEE will be calculated during rest, and continuous incremental exercise by establishing an individual calibration curves for counts accelerometer against rate of oxygen (O2) and rate of carbon dioxide (CO2).
Energy and macro-nutrient intake
Time frame: 14 months
Participants will be asked to estimate their food intake using household measures or natural unit sizes (e.g. slices of bread) and to record their intake for four days including one weekend day. Data from food diaries will be compared to reference UK photographic atlas of food portion sizes to estimate weight of food intake. Food and energy intake will then be calculated using the dietary software 2010 (The Robert Gordon University, Aberdeen, Scotland, UK).
3 secondary outcomes
Body composition
Time frame: 14 months
Quality of life assessment
Time frame: 14 months
Hand-grip strength
Time frame: 14 months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Oct 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.
Dalia Malkova, BSc,MSc,PhD study director
University of Glasgow
Konstantinos Gerasimidis, PhD,MSc,APHNutr principal investigator
University of Glasgow
Barbara Cochrane, BSc,MSc study director
Queen Elizabeth University Hospital
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 Glasgow at 1 site in United Kingdom.
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 2 inclusion and 4 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: status not confirmed, as of the sponsor's last update on 13 Oct 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 United Kingdom. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Nouf A Alghamdi, BSc,MSc (+447437450063, n.alghamdi.1@research.gla.ac.uk), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Basal metabolic rate (BMR) (time frame: 14 months). The study lists 4 primary outcomes in all. 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 13 Oct 2017.