Brain Aging in Phenylketonuria
NCT06969209, Recruiting, Insel Gruppe AG, University Hospital Bern
Trial 8
As registered on ClinicalTrials.gov, in the graph's capture of the registry.
| Field | Value | Source |
|---|---|---|
| Title | Brain Aging in Phenylketonuria | ClinicalTrials.gov |
| NCT number | NCT06969209 | ClinicalTrials.gov |
| Status | Recruiting | ClinicalTrials.gov |
| Enrollment | 90 participants, estimated | ClinicalTrials.gov |
| Lead sponsor | Insel Gruppe AG, University Hospital Bern | ClinicalTrials.gov |
| Conditions | Phenylketonuria (PKU) | ClinicalTrials.gov |
| First posted | 2025-05-13 | ClinicalTrials.gov |
| Last updated | 2025-05-13 | ClinicalTrials.gov |
Registered outcomes 47
Each outcome the trial registered, primary first, in ClinicalTrials.gov's words.
| List | Outcome | Time frame | Description | Source |
|---|---|---|---|---|
| Primary | Brain Age Gap | Time Point 2 (5-year follow-up) | Defines the biological brain age relative to the chronological age across different brain regions. Machine learning models will be used to estimate brain age based on MRI-derived measures. For each participant, an estimate of the Brain Age Gap (predicted brain age minus chronological age, indicating the degree of brain maintenance) will be calculated using XGBoost. XGBoost uses gradient tree boosting based on 1118 features to predict the Brain Age Gap. These features are extracted using Freesurfer. The features consist of thickness, area, and volume measurements from a multimodal parcellation of the cerebral cortex, cerebellum, and subcortex. Possible changes in the Brain age gap will be evaluated by comparing the baseline measurement with the 5 year follow up. | ClinicalTrials.gov |
| Primary | Sustained Attention | Time Point 2 (5-year follow-up) | Changes in sustained attention over 5-years are assessed with the respective subtest "sustained attention" of the Test of Attentional Performance (TAP) in patients with PKU and healthy controls. In this subtest, stimuli with varying features (color, shape, size, filling) appear on a monitor. A target stimulus matches the previous one in one of two predefined dimensions (same shape or same color). Sustained attention is measured in milliseconds, with higher values showing slower reaction time to target stimulus. | ClinicalTrials.gov |
| Primary | Cognitive flexibility | Time Point 2 (5-year follow-up) | Changes in cognitive flexibility over 5-years are assessed using the fourth condition "inhibition/switching" of the color-word interference test of the Delis-Kaplan Executive Function System (D-KEFS) in patients with PKU and healthy controls. Time is measured in seconds with higher completion time indication worse performance in cognitive flexibility. | ClinicalTrials.gov |
| Primary | Plasma concentration of Phe | Time Point 2 (5-year follow-up) | Plasma Phenylalanine (Phe) concentrations are measured in patients with PKU | ClinicalTrials.gov |
| Primary | Diffusion tensor imaging (DTI) | Time Point 2 (5-year follow-up) | DTI is used to assess white matter integrity in patients with PKU and healthy controls. | ClinicalTrials.gov |
| Primary | Arterial Spin Labeling (ASL) | Time Point 2 (5-year follow-up) | ASL is used to assess cerebral blood flow in patients with PKU and healthy controls. | ClinicalTrials.gov |
| Secondary | Resting-state fMRI | Time Point 1 (Baseline) and Time Point 2 (5-year follow-up) | Resting-state fMRI will be used to assess functional connectivity in certain brain regions in patients with PKU and healthy controls | ClinicalTrials.gov |
| Secondary | FLAIR-sequence | Time Point 1 (Baseline) and Time Point 2 (5-year follow-up) | The T2-fluid-attenuated inversion recovery (Flair) will be used to measure white matter lesions in patients with PKU and healthy controls. | ClinicalTrials.gov |
| Secondary | MPRAGE | Time Point 1 (Baseline) and Time Point 2 (5-year follow-up) | A Magnetization Prepared-RApid Gradient Echo (MPRAGE) will be used to obtain high-resolution structural T1-weighted images in patients with PKU and healthy controls. | ClinicalTrials.gov |
| Secondary | General intelligence | Time Point 1 (Baseline) and Time Point 2 (5-year follow-up) | General intelligence will be evaluated using four subtests (vocabulary, arithmetics, symbol search, and matrix reasoning) of the Wechsler Adult Intelligence Scale Fourth Edition (WAIS-IV) in patients with PKU and healthy controls. Average IQ ranges from 85 - 115. Scores above indicate above average IQ, scores below indicate below average IQ. | ClinicalTrials.gov |
| Secondary | Processing speed | Time Point 1 (Baseline) and Time Point 2 (5-year follow-up) | Processing speed will be assessed using the first and second condition of the Stroop test (naming and reading speed; D-KEFS) in patients with PKU and healthy controls. Time is measured in seconds with higher completion time indication worse performance in cognitive flexibility. | ClinicalTrials.gov |
| Secondary | Working memory | Time Point 1 (Baseline) and Time Point 2 (5-year follow-up) | Working memory will be evaluated using the subtest n-back of the computerized test of attentional performance (TAP) in patients with PKU and healthy controls. | ClinicalTrials.gov |
| Secondary | Inhibition | Time Point 1 (Baseline) and Time Point 2 (5-year follow-up) | Inhibition will be measured using the third condition of the Stroop test of the D-KEFS in patients with PKU and healthy controls. | ClinicalTrials.gov |
| Secondary | Design fluency | Time Point 1 (Baseline) and Time Point 2 (5-year follow-up) | Design fluency, the initiation and fluency of generating visual patterns, will be examined using the subtest "design fluency" of the D-KEFS in patients with PKU and healthy controls. | ClinicalTrials.gov |
| Secondary | Motor control and speed | Time Point 1 (Baseline) and Time Point 2 (5-year follow-up) | Fine motor control and fine motor speed will be evaluated using the Purdue Pegboard, which will help to determine manual dexterity and bimanual coordination in patients with PKU and healthy controls. | ClinicalTrials.gov |
| Secondary | Verbal fluency | Time Point 1 (Baseline) and Time Point 2 (5-year follow-up) | Verbal fluency, including letter fluency, will be assessed using the respective subtest of the D-KEFS in patients with PKU and healthy controls. | ClinicalTrials.gov |
| Secondary | Body fat | Time Point 2 (5-year follow-up) | Body fat, including total fat content and visceral fat, will be measured using the Lunar iDXA system (GE Medical Systems, Madison, USA) and Encore software version 18 in patients with PKU and healthy controls. Percentages of fat will be calculated and fat content will be transferred into z-scores. Visceral fat will be measured in gram. A fat mass index will also be calculated. | ClinicalTrials.gov |
| Secondary | Bone density | Time Point 2 (5-year follow-up) | Bone density for whole-body, femur, and spine densitometry, will be measured using the Lunar iDXA system (GE Medical Systems, Madison, USA) and Encore software version 18 in patients with PKU and healthy controls. Measurements will all be transferred into t-scores and z-scores. | ClinicalTrials.gov |
| Secondary | Body Mass Index | Time Point 1 (Baseline) and Time Point 2 (5-year follow-up) | To asses cardiovascular risk factors, the Body Mass Index (BMI) will be measured in kg/m² in patients with PKU and healthy controls. | ClinicalTrials.gov |
| Secondary | Tyrosine | Time Point 1 (Baseline) and Time Point 2 (5-year follow-up) | To asses the amino acid profile, plasma concentrations of tyrosine (Tyr) will be measured through a blood sample following an 8-12 hour overnight fast in patients with PKU and healthy controls. High-performance ion-exchange chromatography (HPLC) coupled with post-column photometric detection of ninhydrin-derivatized amino acids will be employed for amino acid quantification. | ClinicalTrials.gov |
Outcomes 0
Each outcome the trial posted results for, in ClinicalTrials.gov's words.
| Type | Outcome | Time frame | Population | Units | Measured as | Source |
|---|
Results by group 0
Each measurement the trial posted, group by group, in the words and numbers it posted.
| Outcome | Group | Category | Value | Spread | Units | Source |
|---|
Participant flow 0
How many started, completed or left each group, period by period.
| Period | Milestone | Group | Participants | Units counted | Source |
|---|
Adverse events 0
Each adverse event the trial posted, group by group: the participants affected out of those at risk.
| Type | Event | Organ system | Group | Affected | At risk | Events | Source |
|---|
Adverse event totals 0
The totals the trial posted for each group.
| Total | Group | Affected | At risk | Source |
|---|
Papers 6
The papers the trial lists on ClinicalTrials.gov.
Grants 0
The grants NIH RePORTER links to the trial, newest funded first: NIH's, and some of AHRQ's, CDC's, FDA's and VA's. Each shows its title, principal investigators, organization and funder in its newest year.
| Project | Title | Principal investigators | Organization | Funder | Fiscal years | Source |
|---|
Trial comparisons 0
Comparisons of the trial's two groups, calculated by ConductScience from the counts it posted.
| Comparison | Source |
|---|
Tests 7
The ConductCognition tests this trial's registered outcomes name, as ScienceGraph matched them in trial-tests-2026-11-12-0.2.1.
| Test | Named as | Source |
|---|---|---|
| 1-Back Task | Secondary outcome | ConductCognition |
| 2-Back Task | Secondary outcome | ConductCognition |
| Design Fluency Test | Secondary outcome | ConductCognition |
| Matrix Reasoning | Secondary outcome | ConductCognition |
| Stroop Color-Word Test | Secondary outcome | ConductCognition |
| Symbol Scan Task | Secondary outcome | ConductCognition |
| Verbal Fluency | Secondary outcome | ConductCognition |
Source 5
| Field | Value | Source |
|---|---|---|
| Release | trials-2026-11-12-0.4.0 | ClinicalTrials.gov |
| Release manifest SHA-256 | 0f4a8d8c48aee2a7573ae0fa94ecbeab70c1adbe449bbc95c424bc7d3e97b9d4 | ClinicalTrials.gov |
| Registry capture | 2026-11-12 | ClinicalTrials.gov |
| Results copy, AACT | 2026-03-23 | ClinicalTrials.gov |
| NIH clinical studies file | 2026-11-13 | ClinicalTrials.gov |
Release trials-2026-11-12-0.4.0
ClinicalTrials.gov's posted results, through CTTI's AACT: ClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299 ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
ClinicalTrials.gov: none stated ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
NIH RePORTER's clinical studies and project files: Public domain (NIH RePORTER)