Investigating brain aging in adults with phenylketonuria

Brain Aging in Patients With Phenylketonuria

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
• Enrollment: 90 (estimated)
• Ages: 18 Years and up
• Sex: All
• Sponsor: Insel Gruppe AG, University Hospital Bern (other)
• Locations: 1 site (Bern)
• Trial ID: NCT06969209 on ClinicalTrials.gov

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.

Who should consider this trial

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.

Not a fit: Patients who have not adhered to a Phe-restricted diet or have significant comorbid conditions may not benefit from this study.

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 performed: 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.

Eligibility 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 this trial is running

Bern

• 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.

Conditions: Phenylketonuria, Brain aging, Brain age gap, Cognition, Magnetic resonance imaging, Metabolic control, Rare disease, Longitudinal study