Cognition after a 4-week high phenylalanine intake in adults with phenylketonuria - a randomized controlled trial.
Roman Trepp, Raphaela Muri, Stephanie Maissen-Abgottspon...
https://pubmed.ncbi.nlm.nih.gov/38569786Actively Recruiting
Age: 18Years +
All Genders
Healthy Volunteers
ID06969209
Brain Aging in Patients With Phenylketonuria Longitudinal Study of Cognitive and Metabolic Aging
Led by Insel Gruppe AG, University Hospital Bern · Updated on 2025-05-13
90
Participants Needed
1
Research Sites
13 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
This research investigates brain aging in adults with phenylketonuria (PKU), a rare metabolic disorder. It aims to understand how PKU and metabolic control affect cognitive and brain aging over time compared to healthy individuals. The study focuses on early- and mid-adulthood, using brain imaging and cognitive assessments to explore potential accelerated brain aging and its impact on brain health, cognition, and metabolic factors. Participants include adults with PKU who were early treated and healthy controls, with assessments at two time points separated by five years. Participants undergo brain scans using MRI, blood tests including phenylalanine levels, bone density measurements, and neuropsychological testing. The study evaluates biological brain age using advanced imaging analysis and machine learning models, comparing changes in brain structure and function over the follow-up period. During the study, participants will have fasting blood samples, DXA scans, MRI scans, and cognitive testing conducted both at baseline and after five years. Researchers will analyze brain aging trajectories, cognitive performance, metabolic control, and cardiometabolic risk factors. The study's findings aim to clarify how PKU influences brain health in adulthood and support future personalized treatment strategies. Total participation spans the baseline and a 5-year follow-up period with comprehensive evaluations at both times.
CONDITIONS
Brief Title
Brain Aging in Phenylketonuria
Who Can Participate
Age: 18Years +
All Genders
Healthy Volunteers
Eligibility Criteria
You may qualify if you...
- Participation in PICO-Study and/or:
- PKU diagnosed after a positive newborn screening
- Treatment with phenylalanine-restricted diet starting within the first 30 days of life
- Age 18 years or older
- Written informed consent
You will not qualify if you...
- Patients with PKU not following a phenylalanine-restricted diet within 6 months before the study
- Phenylalanine concentration above 1600 �b5mol/L within 6 months before the study
- Concomitant disease states suspected to significantly affect primary or secondary outcomes
- Women who are pregnant or breastfeeding
- Conditions interfering with MRI such as metallic particles in the skull or brain, cardiac pacemaker, deep brain stimulators, cochlear implant, braces, or permanent retainers
- Inability to follow study procedures due to language problems, psychological disorders, dementia, or similar issues (for healthy controls)
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Diagnostic Evaluation
Duration - 1 day per assessment
Participants undergo detailed cognitive, metabolic, and brain imaging assessments including blood sampling, DXA scans, MRI, and neuropsychological testing to evaluate brain aging and metabolic status.
1 visit at baseline and 1 visit at 5-year follow-up
Long-term Monitoring
Duration - 5 years
Participants are followed over a 5-year period to monitor changes in brain structure, cognitive function, and metabolic parameters associated with aging in patients with Phenylketonuria and healthy controls.
Assessments at baseline and again after 5 years
Trial Site Locations
Total: 1 location
1
University Hospital Inselspital, Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism (UDEM)
Bern, Switzerland, 3010
Actively Recruiting
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Research Team
R
Regula Everts, Prof. Dr. phil.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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Published Research Related To This Trial
Cerebral blood flow and white matter alterations in adults with phenylketonuria.
Leonie Steiner, Raphaela Muri, Dilmini Wijesinghe...
https://pubmed.ncbi.nlm.nih.gov/38091797Impact of phenylalanine on cognitive, cerebral, and neurometabolic parameters in adult patients with phenylketonuria (the PICO study): a randomized, placebo-controlled, crossover, noninferiority trial.
Roman Trepp, Raphaela Muri, Stephanie Abgottspon...
https://pubmed.ncbi.nlm.nih.gov/32054509Transient brain structure changes after high phenylalanine exposure in adults with phenylketonuria.
Raphaela Muri, Christian Rummel, Richard McKinley...
https://pubmed.ncbi.nlm.nih.gov/38723047Compromised white matter is related to lower cognitive performance in adults with phenylketonuria.
Raphaela Muri, Stephanie Maissen-Abgottspon, Murray Bruce Reed...
https://pubmed.ncbi.nlm.nih.gov/37265600Cortical thickness and its relationship to cognitive performance and metabolic control in adults with phenylketonuria.
Raphaela Muri, Stephanie Maissen-Abgottspon, Christian Rummel...
https://pubmed.ncbi.nlm.nih.gov/36117142