PheCheck™ Validation Study
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: PheCheck, Dried Blood Spot Cards..
- Who it may be relevant to
- Registry conditions: Phenylketonuria (PKU) and Hyperphenylalaninemia. Basic parameters: from 1 year · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Center list to be confirmed — check the primary protocol.
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
The goal of this observational study is to evaluate the performance of the PheCheck™ test for the rapid detection of phenylalanine (Phe) from a fingerstick sample, in patients 1 year or older with phenylketonuria (PKU) or hyperphenylalaninemia. The main objective is comparing the concentration of phenylalanine (Phe) in capillary blood with the reference method (DBS).
Detailed description
The primary objective of this study is to evaluate the performance of the PheCheck™ test for the rapid, quantitative detection of phenylalanine (Phe) direct from a capillary (fingerstick) sample. Results will be compared to reference testing from Dried Blood Spot Cards (DBS).
The PheCheck™ test performs a quantitative determination of phenylalanine in a self-collected or parent/guardian-collected capillary blood sample.
The analysis will evaluate the performance of the analyte concentration of phenylalanine in prospectively collected samples self-collected and tested by patients with PKU, measured by the PheCheck™ test as compared to the standard of care DBS testing performed by a reference lab
Interventions
- Device PheCheck
Quantitative, single-use, rapid test Intended for home-based self-testing and monitoring of PKU. 1 fingerstick specimen collected at each study visit Sample read using an electronic reader. Results available within 1 hour - Diagnostic test Dried Blood Spot Cards.
Laboratory-based reference method 1 fingerstick specimen at each study visit to collect 5 samples to fill 5 spots on the card. Card sent to a laboratory, results available within 72 hours
Primary outcome measures
- Performance of the PheCheck™ test for the detection of phenylalanine (Phe) concentration from capillary blood as compared to the reference method (DBS) [Time frame: Day 1]
Eligibility criteria
Inclusion criteria
- 1 year or older and able to have a fingerstick blood collected
- Being monitored for Phenylketonuria (classical PKU, mild PKU, variant PKU, or hyperphenylalaninemia)
- Signed informed consent
Exclusion criteria
- Previous enrollment in the study and has completed 3 study visits
- Inability to read and understand instructions
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Center list to be confirmed — check the primary protocol.
Identifiers
NCT: NCT07551921 · CLP-0023