Phenylketonuria (PKU) and HyperphenylalaninemiaNCT07551921
PheCheck™ Validation Study
An observational study of Phenylketonuria (PKU) and Hyperphenylalaninemia, run by Aptatek BioSciences, Inc at 2 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 year and older
- Conditions the study is for
- Phenylketonuria (PKU) and Hyperphenylalaninemia
- What is being tested?
- PheCheck and Dried Blood Spot Cards.
- Type of treatment
- Medical device
- How many people
- 60 participants
- Where
- 2 sitesUnited States
- Study dates
- 20 Aug 2026to 20 Apr 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients 1 year or older with phenylketonuria (PKU) or hyperphenylalaninemia
Who may be able to join
- 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
Who cannot join
- Previous enrollment in the study and has completed 3 study visits
- Inability to read and understand instructions
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States2 sites, 2 recruiting
- Not yet recruiting
Boston Children's Hospital
Boston, Massachusetts, 02115
Palak Mehta, (617) 919-6899, Palak.Mehta@childrens.harvard.edu
Stephanie Sacharow, MD
- Recruiting
Lurie Children's Hospital
Chicago, Illinois, 60611
Steven J Eichinger, (312) 227-8952, seichinger@luriechildrens.org
Erika Vucko
About this study
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).
Read the 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
- Being tested
- PheCheck, Dried Blood Spot Cards.
- Keywords
- Phenylketonuria, PKU, Hyperphenylalaninemia, Phenylalanine
- Medical subject headings
- Phenylketonurias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
PheCheckDevice
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
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
| Study group | Role | What they receive |
|---|---|---|
| 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 Receives: Device: PheCheck; Diagnostic Test: Dried Blood Spot Cards. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Apr 2026
- Study start20 Aug 2026
- Primary completion20 Mar 2027 (estimated)
- Study completion20 Apr 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Phenylketonuria (PKU) and HyperphenylalaninemiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 60 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Aptatek BioSciences, Inc
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07551921
- Sponsor's protocol ID
- CLP-0023
- Status last verified
- Aug 2026
- First submitted
- 15 Apr 2026
- Last updated
- 25 Aug 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 25 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- PheCheck™ Validation Study
- ClinicalTrials.gov ID
- NCT07551921
- Acronym / sponsor ID
- CLP-0023
- Keywords
- Phenylketonuria, PKU, Hyperphenylalaninemia, Phenylalanine
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 60 participants (estimated)
- Lead sponsor
- Aptatek BioSciences, IncIndustry (pharma, biotech, devices)
- Study start
- 20 Aug 2026 (actual)
- Primary completion
- 20 Mar 2027 (estimated)
- Study completion
- 20 Apr 2027 (estimated)
- First posted
- 27 Apr 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with Phenylketonuria or Hyperphenylalaninemia | – | Device: PheCheck, Diagnostic Test: Dried Blood Spot Cards.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 |
Who may qualify
- Ages
- 1 year and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients 1 year or older with phenylketonuria (PKU) or hyperphenylalaninemia
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (2 listed)
- Previous enrollment in the study and has completed 3 study visits
- Inability to read and understand instructions
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| PheCheckQuantitative, 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 | Device | Patients with Phenylketonuria or Hyperphenylalaninemia |
| 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 | Diagnostic test | Patients with Phenylketonuria or Hyperphenylalaninemia |
Primary outcome
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
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 25 Aug 2026.
Related trials for Phenylketonuria (PKU) and Hyperphenylalaninemia
Not yet recruiting
Market Research of a Slow Release Protein Substitute for the Dietary Management of PKU
Phenylketonuria (PKU) and Hyperphenylalaninemia, Brain Diseases, Metabolic, Inborn
Recruiting
The Impact of Frequency of Home Phenylalanine Measurements on Metabolic Control in a Population of Patients With Classic Phenylketonuria
Phenylketonuria (PKU)
Active, not recruitingObservational study
Early Check: Expanded Screening in Newborns
Spinal Muscular Atrophy, Fragile X Syndrome
RecruitingPhase 4
Immune Modulation During Palynziq® Treatment in Adults (IMPALA)
Phenylketonuria
Recruiting
Phenylalanine-free Diet for Patients With Secondary Hyperphenylalaninemia in ICU
Non-Phenylketonuric Hyperphenylalaninemia
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Phenylketonuria (PKU) and Hyperphenylalaninemia, run by Aptatek BioSciences, Inc at 2 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 25 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Catalina Suarez-Cuervo, MD (727-776-5880, Clinicalstudies@lumosdiagnostics.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 25 Aug 2026.