How can AI be used to stratify the risk of rare hereditary diseases? (CardI-HACK project)

To mark the award of France 2030 “Data challenges in healthcare” funding from Bpifrance, IHU ICAN is presenting a research project focusing on hypertrophic cardiomyopathy (HCM), a rare hereditary disease.

Conducted by Pr Philippe Charron (University Professor – Hospital Practitioner) at the Pitié-Salpêtrière Hospital, the CardI-HACK project aims to combine detailed genetic and clinical data and apply artificial intelligence (AI) to progress towards precision medicine through the identification of new bioclinical scores capable of better predicting the prognosis of hypertrophic cardiomyopathies.

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What is hypertrophic cardiomyopathy?

Hypertrophic cardiomyopathy (HCM) is an inherited heart disease that is a major cause of sudden death and/or heart failure in young people <40).

  • This relatively rare disease affects 1 in 500 people in the general population.
  • It is defined by an increase in the thickness of the left ventricular paroid of the heart that is not explained by load conditions.
  • Until now considered monogenic, researchers and doctors have long thought that this disease was linked to a mutation affecting a single gene in the patient.
  • Despite improved knowledge and management of hypertrophic cardiomyopathy, the disease remains unexplained in more than 1 in 3 cases.

The disease is characterized by a 20% risk of death at 20 years, and major progress has been made in preventing complications. For example, when a patient is considered to be at high risk of sudden death from ventricular rhythm disturbance (around 20% of patients), an automatic defibrillator is implanted as a preventive measure.

However, clinicians lack effective tools to offer these interventions at the most opportune time for patients.

Current difficulties in establishing personalized patient follow-up

Due to its rarity, the various clinical and genetic data collected for this disease are heterogeneous, and often based on separate patient cohorts.

At present, cardiogeneticists at rare disease centers are all too often at a loss when faced with the results of genetic and cardiological tests prescribed as part of their disease assessment. In reality, the course of the disease is highly variable and difficult to predict.

This is particularly true of their patients’ relatives who, despite having a similar genetic mutation, sometimes have a completely different clinical picture and/or evolution.

In fact, they are currently using a sudden death risk calculation proposed by the European Society of Cardiology (ESC) in 2014. The relevance of these risk scores is modest, and the distinction between high-risk and low-risk patients is insufficient and remains controversial.

The aim of the innovative CardI-HACK research project

Thanks to the data de plus de 500 patients suffering from hypertrophic cardiomyopathies (HCM), the general objective of this project is to combine detailed genetic and clinical data and apply Artificial Intelligence (AI) to progress vers une médecine de précision through the identification of new bioclinical scores capable of better predicting the prognosis of these pathologies.

It aims to establish, as accurately as possible and for each patient, a polygenic risk score (PRS), un score de risque polygénique (PRS), and integrate it with cardiological data to better identify patients who will benefit from pro-active therapeutic management, in particular via implantation of a medical device (endocavitary or subcutaneous automatic defibrillator, for example).

Artificial Intelligence (AI) will provide new risk stratification with direct translational application to guide therapeutic decision-making. In fact, we want it to enable clinicians to know the risk to which their patients are exposed, in order to adapt their decision-making and the frequency of their follow-up.

Le déroulement du projet

The CardI-HACK project will be managed by the Prof. Philippe Charron, Head of the Reference Center for Hereditary and Rare Heart Diseases, supported by Aurélie Foucher, Project Manager in the ICAN IHU Innovation and Research Valorization team.

Anonymizing genomic data is a key issue for the CardI-HACK project. Combining the analysis of specialists in artificial intelligence methods from Centre de la Sorbonne pour l’intelligence artificielle (SCAI) with the regulatory expertise of IHU ICAN and its data protection delegate, with the help of the regulatory and legal teams from Health Data HubA methodology for anonymizing genomic data will be defined to meet the regulatory requirements of the RGPD and the scientific requirements of the CardI-HACK project, and submitted to the CNIL for approval.

This project has received funding from Bpifrance as part of the “Data Challenges in Healthcare” call for projects under the France 2030 plan.

Financing obtained: €199,934

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The support of patrons and donors is essential to accelerate this IHU ICAN research project, and improve knowledge and management of hypertrophic cardiomyopathy.

Would you like to find out more about sponsorship at IHU ICAN? Contact Francine Trocmé at or 01 88 40 64 05.