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

Precision biomarkers for improving the diagnosis and treatment of inflammatory myocardial disease (PreMYO)

PMP22/00105
Year: 2022
Autonomous Communities: MURCIA

Axes of Affiliation

Line of research

Project Video

Summary

Myocarditis is a disease of great impact on care, with acute forms, such as sudden death, and chronic forms, such as cardiomyopathy and heart failure. Its diagnosis remains a challenge due to clinical variability and the lack of accessible and accurate tests. In recent years, its clinical suspicion has increased in the National Health System (SNS), partly due to the detection of myocardial damage by troponins, which has increased the use of health resources, such as hospitalizations, coronary angiography, cardiac MRIs and endomyocardial biopsies. Despite the advances, important gaps in the knowledge of the disease persist, such as unexplained individual susceptibility, lower diagnosis in women and greater severity in young patients. The Pre-MYO project will implement a myocarditis study platform based on a national cohort of more than 1000 patients with clinical suspicion of myocarditis. Their clinical phenotype, care management, blood and imaging biomarkers, and epidemiological and environmental factors will be analyzed. Acquired and inherited mutations and their interaction with the environment will also be studied to understand individual susceptibility, disease severity, and response to treatment. At the same time, a clinical trial will be developed to prospectively evaluate the clinical-healthcare impact of hsa-miR-Chr8:96, a new biomarker previously identified by the research team (NEJM, 2021), with the aim of improving the accuracy and precocity in the diagnosis of myocarditis. PreMYO involves 76 centres in all the autonomous communities and more than 300 researchers, structured in six work packages; and its development will improve the diagnosis of myocarditis, making it more accessible, early and accurate, and care management. In addition, this project will make it possible to identify determinants of individual susceptibility in order to incorporate preventive measures and personalized therapies. In addition, the project will contribute to the strategic axes of IMPACT (precision, genomics and data), facilitating its sustainability, internationalization and the generation of new lines of research.

Coordinator and Institution

Principal Investigator
Domingo A. Pascual Figal
Institution
Objectives
  1. The main objective of the project is to study whether the measurement of a new biomarker (Hsa-miR-Chr8:96) in blood can improve the diagnosis of myocarditis, in terms of accuracy and earliness. This objective has implications for both the patient and the health system:
    • In the patient: to study whether the diagnosis of myocarditis using this biomarker facilitates the establishment of preventive and therapeutic measures in patients with clinical suspicion, helping in decision-making and a better prognosis.
    • In the health system: study whether the incorporation of this biomarker is associated with a more precise diagnosis and savings in health resources.

    The relevance of myocarditis and its current growth also support the fact that this project has as additional or secondary objectives:

    1. To study at the genomic level the presence of somatic mutations or other acquired or inherited mutations, which explain the individual’s susceptibility to acute myocarditis or inflammatory cardiomyopathy, both to their condition and to its severity.
    2. To study the causes of gender differences in this disease (predominance in men), clarifying whether there is an underdiagnosis in women or if there are pathophysiological mechanisms involved in a protective effect.
    3. To study the interaction between mutations and the expressiveness of the disease in relation to gender, age and environmental elements, with the application of bioinformatic techniques of molecular epidemiology and the study of the exposome through the study of the methylation of the individual.
    4. To study which genetic, socioeconomic or environmental factors influence the specific expression of hsa-miR-Chr8:96 (miR-721) in patients with myocarditis, by studying its expression in different cell types and applying causal inference methods (mendelian randomization) to understand its relationship with the exposome.

    From the perspective of the contribution to IMPaCT, the project aims to:

    From IMPaCT’s perspective, the project aligns with its strategic axes by:

    1. To create a national platform for the study of myocarditis, with clinical, imaging and genomic data, facilitating new research projects.
    2. Promote the interoperability of clinical data through automated access to patient information through the electronic medical record.
    3. Share genomic information through tools such as federated Beacon and EGA, ensuring its reuse in other studies.
    4. To reduce variability in the clinical management of myocarditis, promoting a more homogeneous diagnostic and therapeutic approach based on personalized medicine.
Impact
  • This project will provide an innovative and accessible diagnostic tool for myocarditis, allowing for more accurate and earlier identification of patients at risk. Its implementation will contribute to optimizing the management of health resources, reducing unnecessary hospitalizations and invasive procedures.
  • The identification of mutations associated with increased susceptibility and their interaction with individual variables, etiological and environmental factors, may lead to personalized strategies that allow the disease to be prevented or improved in a personalized medicine approach.
  • The availability of this well-defined national cohort, addressing the multiple dimensions of the pathology, with both biological and imaging biobanks, with extensive phenotyping at the onset of the disease and subsequent follow-up, will add value to the Spanish research system in its IMPaCTpact cohorts, as it is a pathology that is clearly increasing and, where there is consensus among the scientific and medical community of the need for collaborative structures and exhaustive registries.
  • On the other hand, the project can add additional value to the system by focusing on this pathology, the management of which is subject to significant variability, and which can benefit from uniformity in the diagnostic approach and continued improvement in the interaction between the different centres and team members.
  • At the social-health level, an impact is expected in relation to the benefit on other pathologies, since myocarditis is a side effect and/or complication of treatments and other pathologies, such as antineoplastic drugs.

Therefore, PreMYO is in a position at the end of the same to make an immediate transfer in terms of having: 1) a new diagnostic biomarker to improve the accuracy and early detection of myocarditis and myocardial inflammatory disease; 2) a platform for studying the disease available to the SNS and public research bodies.

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