Clinical trial NCT06940193: A Self-test Home-use Blood Phenylalanine Monitoring System Under the Brand Name Egoo Phe System Has Been Developed for Measurement of Phenylalanine (Phe) in Individuals Diagnosed With Phenylketonuria (PKU): The Study Purpose is to Evaluate Accuracy and Usability
Official title: Egoo Phe System - A Blood Phenylalanine Self-Test Measuring System
Study type: OBSERVATIONAL
Overall status: ENROLLING_BY_INVITATION
Conditions: Phenylketonuria (PKU)
Keywords: phenylketonuria
phenylalanine
Phe
Self-test
Lead sponsor: Egoo Health Aps
Sponsor class: INDUSTRY
First posted: 2025-04-23
Enrollment: 20
Sex: ALL
Maximum age (years): 3
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Patients with PKU (3-17 years of age)

Brief summary: A home-use self-test blood phenylalanine monitoring system under the brand name Egoo Phe System from manufacturer Egoo Health Aps has been developed for measurement of phenylalanine (Phe) in individuals diagnosed with phenylketonuria (PKU). This home monitor is intended to be an adjunct to current clinical practice in the management of individuals with PKU. The objective of this investigation is to perform multi blood comparison studies between the Egoo Phe System and the standard analytical methods (finger prick blood spots) to demonstrate the Egoo Phe System's accuracy.

Detailed description: The Egoo Phe System is intended to be used by Healthcare Professionals in the hospital, for near-patient testing in the home of the PKU patients, and for self-testing guided by the manufacturer's instructions-for-use and after being trained by healthcare professionals.

Currently, no home-based method exists for convenient and timely monitoring of blood phenylalanine (Phe) levels. The standard practice is for patients to collect their own blood samples on a sample collection filter paper. These dried blood spot samples are posted to the hospital. The laboratories then give the results to the dietitians within 2 working days. The dietitians report the results to the patients' caregivers the same day the results become available. However, the process may take anything from 3 to 7 days, dependent on the reliability of the postal system. This delay in feedback prevents timely adjustment of dietary treatment.

Research studies, clinical guidelines, and the PKU patient organizations have highlighted a need for more frequent blood Phe testing and more timely/real-time results for the better management and treatment of PKU. Many of these studies and reports have outlined the critical need for a simple, rapid, and accurate method for monitoring Phe blood levels, especially during the first years of life. A number of these studies have also indicated that a home monitor could make management of the condition easier and more effective. In particular, the immediate, and possibly daily, feedback supplied by such a monitor would allow for better dietary adjustments so that Phe blood levels could be more consistently maintained. A survey of PKU patients and their primary caregivers have highlighted the potential utility of a home monitor in managing PKU. A large majority of the respondents believed a home monitor would facilitate better management of PKU through more regular and timely feedback. Therefore, a more accessible and convenient method of testing and monitoring blood Phe levels on a regular schedule with immediate results at home would greatly improve the management of PKU.

Eligibility criteria: Inclusion Criteria:

* All individuals with PKU aged 3 years and over
* Subjects with a confirmed diagnosis of PKU detected from newborn screening
* Healthy adult volunteers (\>18 years of age) without PKU
* Male and female subjects will be included in this study.

Exclusion Criteria:

* Children under the age of 3 years
* Individuals with needle phobia
* Patients with comorbidities that may affect tolerance of blood sampling e.g. autism or other neurodiversity disorders
* Patients with acute illness e.g. chicken pox, tonsillitis requiring antibiotics
* Patients with chronic illness and taking long term medications e.g. diabetes.

Primary outcomes:
measure: The primary outcome measure is blood phenylalanine.
timeFrame: Monitoring of patient phenylalanine levels for 6 months.
Secondary outcomes:
Other outcomes:
Locations:
city: Birmingham
country: United Kingdom
facility: Birmingham Women's and Children's NHS Foundation Trust
Study officials:
affiliation: Birmingham Women's and Children's NHS Foundation Trust
name: Anita MacDonald
role: PRINCIPAL_INVESTIGATOR
References: