Investigating brain aging in adults with phenylketonuria
Official title: Brain Aging in Patients With Phenylketonuria
Run by Insel Gruppe AG, University Hospital Bern · NCT06969209 · Data updated 2026-11-12
This study looks at how living with phenylketonuria (PKU) affects brain aging and thinking skills in adults who have followed a special diet since they were babies.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 18 Years and up |
| Sex | All |
| Enrollment | 90 (estimated) |
| Sponsor | Insel Gruppe AG, University Hospital Bern Academic / other |
| Locations | 1 site (Bern) |
| Status | Recruiting |
| Started | January 13, 2025 |
| Main results expected | May 30, 2030 |
| Study ends | August 30, 2030 |
| Registry record updated | May 13, 2025 |
| Trial ID | NCT06969209 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates for this study are adults aged 18 and older with a diagnosis of phenylketonuria who have been on a Phe-restricted diet since early infancy.
✕Probably not a fit
Patients who have not adhered to a Phe-restricted diet or have significant comorbid conditions may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study aims to explore how phenylketonuria (PKU) affects brain aging and cognitive function over a five-year period. It will utilize the 'Brain Age Gap' metric to compare the biological brain age of PKU patients to healthy controls, assessing changes in brain structure and cognitive performance. The study will include adults diagnosed with PKU who have adhered to a Phe-restricted diet since infancy, and will analyze various metabolic parameters alongside cognitive assessments. The findings could provide insights into the long-term effects of PKU management on brain health.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management strategies for cognitive decline in adults with PKU.
How similar studies have gone: While there have been studies on cognitive outcomes in PKU, this specific approach using the Brain Age Gap metric is novel and has not been extensively tested.
Who can join: the full rules
Show full inclusion / exclusion criteria
Patients with PKU Inclusion Criteria: * Participation in PICO-Study and/or: * PKU diagnosed after a positive newborn screening * Treatment with Phe-restricted diet starting within the first 30 days of life * Age ≥18 years * Written informed consent Exclusion Criteria: * Patients with PKU not following a Phe-restricted diet within 6 months before the study * Phe concentration above 1600 µmol/L within 6 months before the study * Concomitant disease states suspected to significantly affect primary or secondary outcomes * Women who are pregnant or who are breast feeding * Conditions interfering with MRI such as magnetic (metallic) particles in the skull or brain, cardiac pacemaker, deep brain stimulators, cochlear implant, braces or permanent retainers Healthy controls Inclusion Criteria: * Age ≥18 years * Written informed consent Exclusion Criteria: * Concomitant disease states suspected to significantly affect primary or secondary outcomes * Women who are pregnant or who are breast feeding * Inability to follow the procedures of the study, e. g. due to language problems (lack of fluency in German or French), psychological disorders, dementia, etc. of the participant * Conditions interfering with MRI such as magnetic (metallic) particles in the skull or brain, cardiac pacemaker, deep brain stimulators, cochlear implant, braces or permanent retainers
Where it's running
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University Hospital Inselspital, Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism (UDEM)
Bern, Switzerland Recruiting
Study contacts
- Principal investigator: Regula Everts, Prof. Dr. phil. — Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism, Inselspital, Bern University Hospital and University of Bern, Switzerland
- Study coordinator: Regula Everts, Prof. Dr. phil.
- Email: regula.everts@insel.ch
- Phone: +41 31 63 2 84 97
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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How often to check phenylalanine in adults with classic PKU
This study tests whether checking phenylalanine levels weekly instead of monthly helps adults with classic PKU keep their levels under better control.
-
MZE782 in adults with phenylketonuria (PKU) testing safety and efficacy
This study tests whether MZE782 works safely for adults with PKU compared with a placebo.
-
PL54 injection safety in adults with PKU
This study tests whether PL54 is safe and tolerable when given once or in multiple weekly shots to adults with phenylketonuria.
-
Multiomics (genome plus metabolome) approach for adults with phenylketonuria
This project will test whether combining whole-genome sequencing from saliva and non-targeted blood metabolomics can find genetic and metabolic patterns linked to symptoms in adults who were treated for phenylketonuria from birth.
-
Long-term JNT-517 treatment for people with phenylketonuria
This trial tests the long-term safety of JNT-517 in children and adults with PKU, including people who previously took JNT-517 and those who are new to the drug.
-
Long-term evaluation of immune response in PKU patients receiving Palynziq
This study is testing how well Palynziq works over 10 years for people with PKU by looking at their immune responses and overall health.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.