ApneaScreener - Innovation in the diagnosis and monitoring of Obstructive Sleep Apnea Syndrome

Overview

Project Summary

The APNEAscreener is the first blood-based sleep apnoea (OSA) diagnostic device, enabling faster, simpler and earlier detection, as well as monitoring the response to treatment at reduced costs. It differentiates OSA patients from healthy individuals by molecular markers in the blood. This innovative approach will transform the diagnosis and management of OSA, improving clinical outcomes and reducing healthcare costs.

Main Goals

ApneaScreener aims to offer a fast, economical and non-invasive alternative to polysomnography (PSG), currently the gold standard diagnostic system, with additional potential for treatment monitoring. The main objective of this project is therefore to advance the technological level of APNEAscreener. Specific objectives include:
1. Collection of clock gene expression data in patients with OSA in peripheral blood cells:
Evaluation of clock gene expression and analysis of changes in gene expression profiles throughout the day and after CPAP treatment at two different times — short-term (4 months) and long-term (2 years) treatment in a larger number of patients.
2- Development of the algorithm that serves as the basis for APNEAscreener
Based on the data generated in the validation phase, we will use machine learning approaches to define the characteristics that best discriminate between patients and controls, as well as between treated and untreated patients. We will also assess whether these characteristics can distinguish different OSAS phenotypes (distinct clinical characteristics). At the end of this stage, we expect to proceed with a patent application (at the time of project submission, the provisional patent is under review).
In addition, we will establish diagnostic thresholds and subgroups of patients with OSA to increase the specificity and sensitivity of the algorithm, with the aim of achieving metrics above 80%.

3- Validation and optimisation of the APNEAscreener algorithm in a clinical setting
The APNEAscreener algorithm will be tested at the Sleep Medicine Centre of the Coimbra Local Health Unit on patients with suspected sleep disorders undergoing PSG. Over a period of 9 months, a parallel comparison will be made between APNEAscreener and PSG. Blood samples will be collected from patients at the most appropriate time of day, according to the data obtained in the validation phase. The samples will be processed, and the algorithm will be run with the data obtained. Finally, discriminatory performance in relation to disease status (sensitivity, specificity, positive predictive value, negative predictive value, likelihood ratio for positive test, likelihood ratio for negative test, diagnostic odds ratio, Youden's index) will be evaluated using the bagging tree methodology. The algorithm will be adjusted during this phase.

4- Development of the APNEAscreener device prototype
The first prototype of the APNEAscreener device will be developed, incorporating the technology and reagents necessary for the analysis of blood samples.

5- Establishment of protocols and fundraising for technological demonstration in other sleep units in Portugal
During the project, the team will establish protocols with other sleep units in Portugal and seek other forms of funding for the next phases, aiming at technological demonstration in other sleep units.
Thus, the objective will be to demonstrate the feasibility of ApneaScreener for large-scale implementation in public and private health centres. And to promote the tool's patentability potential and marketability, contributing to the advancement of technologies in sleep medicine.

With the achievement of these objectives, we anticipate significant progress in the development of an innovative tool for the clinical management of OSA.

Project Details