Cognitive outcomes in Phenylketonuria when returning to diet
Research type
Research Study
Full title
Assessing possible cognitive, emotional and quality of life benefits of resuming a diet in adults with PKU
IRAS ID
255820
Contact name
Cristina Romani
Contact email
Sponsor organisation
Aston University
Duration of Study in the UK
6 years, 0 months, 1 days
Research summary
People with Phenylketonuria (PKU), develop cognitive problems and poor mental health unless the food they eat is strictly controlled. This is because PKU leads to dangerous increases in levels of the amino acid Phenylalanine (Phe) in the blood causing irreparable damage to certain brain structures.
This project aims to compare the short-term cognitive and emotional effects of resuming a previously abandoned treatment diet in adults with PKU. We want to see whether outcomes improve or remain stable as individuals resume their PKU diet and levels of Phe in the blood decrease. This is particularly important in PKU as many patients abandon their diet after adolescence, and we do not yet know what impact this may have on cognitive abilities. Diets are often resumed in adulthood, most commonly due to a desire to improve one's home/work life, or because a patient is intending to become pregnant. Showing that cognitive abilities improve after resuming a strict diet would show that maintaining/abandoning a diet in adulthood has implications for cognition.
Testing will be conducted using a battery of neuropsychological assessments of cognitive function and a number of standardised measures of well-being. Phe levels will be measured using a blood spot test, the same as those administered during patients' regular clinical visits. Tests will be conducted at three separate times: 1) when diet is not/loosely followed (Phe level ≥600 micromole/l); 2) ≥3 months after target Phe level of <360 micromole/l has been reached; and 3) ≥6 months after Phe target has been reached.
Our objective is to compare cognitive outcomes and emotional well-being at different time points after diet resumption, to better understand the short-term effects of resuming the PKU diet on cognitive abilities and well-being. Relationship with current Phe levels will also be investigated using correlation analyses.
REC name
West Midlands - Edgbaston Research Ethics Committee
REC reference
19/WM/0214
Date of REC Opinion
31 Jul 2019
REC opinion
Favourable Opinion