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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).
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
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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 |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| 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 |
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Inclusion Criteria:
Exclusion Criteria:
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Patients 1 year or older with phenylketonuria (PKU) or hyperphenylalaninemia
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Catalina Suarez-Cuervo, MD | Contact | 727-776-5880 | Clinicalstudies@lumosdiagnostics.com |
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| ID | Term |
|---|---|
| D010661 | Phenylketonurias |
| ID | Term |
|---|---|
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
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Leftover DBS cards may be stored at the reference laboratory for retesting or future research
| 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 |
|
| D009422 | Nervous System Diseases |
| D000592 | Amino Acid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |