Body Composition, Energy Intake and Expenditure in People With Phenylketonuria

NCT03309345 | Unknown

• 1 other identifier: R&D:GN16ME448P, REC:16/SW/0288
• Study Type: observational
• Target: 26
• Locations: 1 country
• Sites: 1

Brief 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. 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.

Conditions

Phenylketonuria (PKU)

Outcome Measures

Primary Outcomes (4)

• Basal metabolic rate (BMR)

  BMR by means of computerised open-circuit ventilated hood system (Quark RMR®, Italy).

  14 months

• Diet induce thermogenesis (DIT)

  DIT will be measured by means of computerised open-circuit ventilated hood system (Quark RMR®, Italy).

  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).

  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).

  14 months

Secondary Outcomes (3)

• Body composition

  14 months

• Quality of life assessment

  14 months

• Hand-grip strength

  14 months

Study Arms (2)

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.

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.

Other: No intervention

Interventions

No intervention OTHER

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

Case group, PKU group; Control group, healthy control

Eligibility Criteria

• Age: 10 Years - 45 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

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).

You may qualify if:

• Children and adults with PKU between 10 to 45 years old
• Free from history of any acute and chronic illness (other than PKU)

You may not qualify if:

• 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

Sponsors & Collaborators

• University of Glasgow: lead

Study Sites (1)

University of Glasgow

Glasgow, Scotland, G31 2ER, United Kingdom

RECRUITING

MeSH Terms

Conditions

Phenylketonurias

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Dalia Malkova, BSc,MSc,PhD

  University of Glasgow

  STUDY DIRECTOR

• Konstantinos Gerasimidis, PhD,MSc,APHNutr

  University of Glasgow

  PRINCIPAL INVESTIGATOR

• Barbara Cochrane, BSc,MSc

  Queen Elizabeth University Hospital

  STUDY DIRECTOR

• Sarah Adam, BSc,PGC

  Glasgow Royal Infirmary Hospital

  STUDY DIRECTOR

• Peter Galloway, Med,MB CHB,DCH,FRCP,FRCPath

  Glasgow Royal Infirmary Hospital

  STUDY DIRECTOR

Central Study Contacts

Nouf A Alghamdi, BSc,MSc

CONTACT

+447437450063; n.alghamdi.1@research.gla.ac.uk

Hani Alfheeaid, BSc,MSc

CONTACT

+447533260555; h.alfheeaid.1@research.gla.ac.uk

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Lecturer in Clinical Nutrition

Study Record Dates

• First Submitted: June 23, 2017
• First Posted: October 13, 2017
• Study Start: January 20, 2017
• Primary Completion: January 20, 2019
• Study Completion: January 20, 2019
• Last Updated: October 13, 2017

Record last verified: 2017-10

Locations

GB (1)