Evidence map›Paper›PMID 41074188›Full record

ArticleOrphanet journal of rare diseases2025

Performance of the Egoo test for phenylalanine measurement in females with phenylketonuria.

Meriah S Schoen, Serei Vatana Nath, Rani H Singh

Abstract read
In one paragraph

Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

Meriah S SchoenDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA. meriahschoenphd@gmail.com.ORCID 0000-0003-4015-2247
Serei Vatana NathDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Rani H SinghDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.

Funding

Implementing a Maternal health and PRegnancy Outcomes Vision for Everyone (IMPROVE)UL1TR002378 · NCATS · EMORY UNIVERSITY · PI Andres J Garcia, Elizabeth O. Ofili · 2017 to 2026
$92.1M
NCATS NIH HHS UL1 TR002378NCATS NIH HHS UL1TR002378
6 · The paper itself

Abstract

backgroundAccurate measurement of phenylalanine (Phe) is a requirement for the diagnosis and management of individuals with Phenylketonuria (PKU). The current methods for quantifying Phe, plasma amino acids, and dried blood spots (DBS) have several analytical limitations and are not suitable for self-monitoring. This study evaluated the validity of a point-of-care testing (POCT) device, the Egoo Phe Test, in a sample of females with PKU who participated in a five-day camp intervention.

methodsBlood samples were collected from 20 participants (median age: 18 years; IQR: 16, 28.3) on the first (day 1) and/or final (day 5) day of camp for Phe quantification by plasma amino acids, DBS, and the Egoo Phe Test. Phe concentrations determined by these three methods were compared to assess agreement.

resultsOn both days of camp, strong positive agreement based on Lin's concordance correlation coefficient (p

conclusionsThe Egoo Phe Test demonstrated potential as a substitute for DBS, but additional research in larger and more diverse clinical cohorts is required. Future research should focus on improving accuracy and defining analytical targets that consider the clinical impact of Phe test performance on management of patients with PKU. CLINICAL TRIAL NUMBER: not applicable.

Indexed as

PhenylalaninePhenylketonuriasAdolescentAdultDried Blood Spot TestingFemaleHumansYoung AdultPhenylalanineDried blood spotsHome blood samplingHome monitoringPhenylalanine (Phe)Phenylketonuria (PKU)Point-of-care-testing

Identifiers

PMID41074188
PMCPMC12512701

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.