Infraestructura de Medicina de Precisión asociada a la Ciencia y la Tecnología
IMPaCT MEETING
18 Nov 2024 – form 09:30 to 18:00

PMP-DEGESCO: Validation of a precision medicine tool based on online cognitive evaluation, genetic risk stratification and bloodbased biomarkers for identification of preclinical Alzheimer’s Disease.

PMP22/00022
Year: 2022
Autonomous Communities: MADRID

Axes of Affiliation

Line of research

Project Video

Summary

Our goal is to create a global strategy to identify cases of Alzheimer’s disease (AD) in target populations in the early stages of disease development (prodromal and preclinical cases of AD). This unmet medical need, strongly demanded by patients and their families, is increasingly pressing considering the imminent arrival of disease-modifying drugs.

This proposal consists of launching a nationwide web platform to test Precision Medicine tools. We propose a multi-step strategy by successively incorporating precision medicine techniques into diagnostic algorithms.

Fourteen memory clinics from 8 Autonomous Communities will participate in the construction of two cohorts with enriched sub-cohorts.

1.- “PMPDEGESCO online cohort” (n=50000) that will explore the use of digital cognitive tests, genetic risk scores and plasma biomarkers of AD in target populations through a web tool.

2.- “Clinical validation cohort” with in-depth examination and CSF analysis as standard gold (n=1000).

Coordinator and Institution

Principal Investigator
Pascual Sánchez-Juan
Institution
Objectives

Main objective:

The main objective is to validate a precision medicine tool based on online cognitive assessment, genetic risk stratification and blood biomarker analysis for the identification of AD in different scenarios.

Secondary objectives:

  1. Cognitive health platform: generating a “citizen science” campaign to stratify participants using sociodemographic data, family history of AD, and scores on online cognitive assessments.
  2. Primary prevention program aimed at individuals with a family history of dementia: identification of the population with high genetic risk of AD through specific profiles based on polygenic risk markers (PRS) in combination with digital markers and sociodemographic data.
  3. Secondary prevention programme: optimisation of the use of plasma biomarkers for mass screening of the Spanish population, allowing not only the early diagnosis of preclinical and prodromal cases of AD, but also rapid access to new experimental therapies and immediate access to educational, health and social support.
  4. Early diagnosis cohort: generation of a prospective cohort of patients with preclinical and prodromal AD. This cohort will be strategic in the long term to continue testing classifiers and precision medicine algorithms compared to the Gold-standard diagnostic routine currently applied in memory clinics.
Impact

We intend to provide our National Health System with an instrument to:

1.Improve the detection of individuals with prodromal AD (mild cognitive impairment.)

2. To allow the identification of individuals with preclinical and very early prodromal AD, allowing secondary prevention once disease-modifying drugs are available.

3. Identify healthy individuals with a high genetic risk of AD, which will be decisive for future selective primary prevention strategies.

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