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Real-life application of a point-of-care biosensor for phenylalanine in patients with phenylketonuria

Phenylketonuria (PKU) is a rare metabolic disorder causing elevated phenylalanine (PHE) levels requiring lifelong dietary or pharmacological management and regular monitoring. Current PHE monitoring methods, such as tandem mass spectrometry (FIA-MS/MS), are laboratory and sample transport-dependent,...

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Autori principali: Gondrand, Corentin (Autore) , Reischl-Hajiabadi, Anna Theresa (Autore) , Bonedeau, Estelle (Autore) , Weiß, Nicolas (Autore) , Schneider, Gerd (Autore) , Fahn, Maurice (Autore) , Myers, Frederic (Autore) , Städle, Philipp Minel (Autore) , Jeltsch, Kathrin (Autore) , Hoffmann, Georg F. (Autore) , Okun, Jürgen G. (Autore) , Haas, Dorothea (Autore) , Garbade, Sven (Autore) , Johnsson, Kai (Autore) , Opladen, Thomas (Autore)
Natura: Article (Journal)
Lingua:inglese
Pubblicazione: May 2026
In: Journal of inherited metabolic disease
Year: 2026, Volume: 49, Fascicolo: 3, Pages: 1-11
ISSN:1573-2665
DOI:10.1002/jimd.70187
Accesso online:Verlag, kostenfrei, Volltext: https://doi.org/10.1002/jimd.70187
Verlag, kostenfrei, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.70187
Testo
Note sull'autore:Corentin Gondrand, Anna T. Reischl-Hajiabadi, Estelle Bonedeau, Nicolas Weiß, Gerd Schneider, Maurice Fahn, Frederic Myers, Philipp Minel Städle, Kathrin Jeltsch, Georg F. Hoffmann, Jürgen G. Okun, Dorothea Haas, Sven F. Garbade, Kai Johnsson, Thomas Opladen
Descrizione
Riassunto:Phenylketonuria (PKU) is a rare metabolic disorder causing elevated phenylalanine (PHE) levels requiring lifelong dietary or pharmacological management and regular monitoring. Current PHE monitoring methods, such as tandem mass spectrometry (FIA-MS/MS), are laboratory and sample transport-dependent, leading to delays in obtaining results. This highlights the need for accessible point-of-care (PoC) solutions. Building on a previously developed bioluminescence-based PHE quantification method, we created a PoC PHE sensor integrated with a smartphone app (phenyx app) for real-time monitoring and data sharing. In a clinical study with PKU patients, we evaluated the reliability of the sensor and the app by comparing at-home PHE measurements with dried blood samples (DBS) analyzed using the gold standard FIA-MS/MS. We also assessed time differences between sampling and results, sensor practicality, and user experience. Forty-seven PKU patients (median age 10.0 years, range 0.7-53.4) performed one supervised and four at-home measurements using the PHE sensor, alongside DBS sampling for FIA-MS/MS. The sensor showed higher PHE values than FIA-MS/MS, with a mean difference of 84.8 μmol/L (p = 0.0017). Variability was influenced by test supervision (clinic vs. home) and test kit age (greater difference in older batches, p = 0.001). Usability of the PHE sensor and phenyx app was rated favorably; all patients preferred the PHE sensor over laboratory testing. PoC measurement using the PHE sensor and phenyx app is feasible, reliable, and provides rapid results comparable to FIA-MS/MS, representing a key step toward patient self-testing. Trial Registration: NCT05998109, NCT06940193, DRKS00031972.
Descrizione del documento:Online veröffentlicht: 16. April 2026
Gesehen am 22.06.2026
Descrizione fisica:Online Resource
ISSN:1573-2665
DOI:10.1002/jimd.70187

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