PheCheck™ Validation Study

NCT07551921 | Not Yet Recruiting FDA Device

• 1 other identifier: CLP-0023
• Study Type: observational
• Target: 60
• Locations: 0 countries
• Sites: N/A

Brief Summary

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).

Conditions

Phenylketonuria (PKU) and Hyperphenylalaninemia

Keywords

Phenylketonuria; PKU; Hyperphenylalaninemia; Phenylalanine

Outcome Measures

Primary Outcomes (1)

• Performance of the PheCheck™ test for the detection of phenylalanine (Phe) concentration from capillary blood as compared to the reference method (DBS)

  The primary objective of this study is to evaluate the performance of the PheCheck™ (Aptatek Biosciences) test for the rapid, quantitative detection of phenylalanine (Phe) direct from a capillary (fingerstick) sample. PheCheck™ is a self-test to be performed by PKU patients. Results will be compared to reference testing from Dried Blood Spot Cards (DBS) tested in a designated reference laboratory. Phe results will be blinded to the study participant

  Day 1

Study Arms (1)

Patients with Phenylketonuria or Hyperphenylalaninemia

Device: PheCheck Test Description: Quantitative, single-use, rapid test Intended for home-based self-testing and monitoring of PKU. 1 fingerstick specimen collected at each study visit Comparator: Dried Blood Spot Cards. 1 fingerstick specimen collected at each study visit

Device: PheCheck; Diagnostic Test: Dried Blood Spot Cards.

Interventions

PheCheck DEVICE

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

Patients with Phenylketonuria or Hyperphenylalaninemia

Dried Blood Spot Cards. DIAGNOSTIC_TEST

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

Patients with Phenylketonuria or Hyperphenylalaninemia

Eligibility Criteria

• Age: 1 Year+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients 1 year or older with phenylketonuria (PKU) or hyperphenylalaninemia

You may qualify if:

• 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

You may not qualify if:

• Previous enrollment in the study and has completed 3 study visits
• Inability to read and understand instructions

Sponsors & Collaborators

• Aptatek BioSciences, Inc: lead

Biospecimen

Retention: SAMPLES WITHOUT DNA

Leftover DBS cards may be stored at the reference laboratory for retesting or future research

MeSH Terms

Conditions

Phenylketonurias

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Central Study Contacts

Catalina Suarez-Cuervo, MD

CONTACT

727-776-5880; Clinicalstudies@lumosdiagnostics.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 15, 2026
• First Posted: April 27, 2026
• Study Start (Estimated): May 20, 2026
• Primary Completion (Estimated): December 15, 2026
• Study Completion (Estimated): March 15, 2027
• Last Updated: April 27, 2026

Record last verified: 2026-04