- Recherche
CRISTI European Project Launch
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From 16 June 2025 to 17 June 2025false false
We are proud to coordinate a new European research program dedicated to inherited heart diseases. As we launch the CRISTI project, we are bringing together in Nantes this week the international researchers involved in this ambitious and transformative initiative for patients at risk of sudden cardiac death.
Our lab coordinates a European project on Catecholaminergic Polymorphic Ventricular Tachycardia
The CRISTI research program — “from CPVT patient RIsk Stratification to new Therapeutic Interventions” — is funded with €1.5 million over four years, thanks to an unprecedented partnership between three foundations: Fondation Lefoulon-Delalande in France, the British Heart Foundation in the United Kingdom, and the Dutch Heart Foundation in the Netherlands. The program is coordinated by Dr. Julien Barc, within the Human Genetics team
The work will be shared among the three teams meeting this week in Nantes:
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Amsterdam UMC (Dr. Christian van der Werf) will focus on identifying clinical markers to improve diagnosis and arrhythmic risk stratification.
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L'institut du thorax, led by Dr. Julien Barc, will develop a genetic risk score to identify patients at risk of sudden cardiac death.
- The University of Manchester (Dr. Luigi Venetucci), in collaboration with l'institut du thorax under the leadership of Dr. Jérôme Montnach, will develop innovative and targeted therapeutic approaches to address arrhythmias at their source, and will investigate new molecular mechanisms identified by the genetics group led by the thorax institute.
From left to right : Luigi Venetucci, Christian Van der Werf, Keiko Shimamoto*, Katharine King, Soesja Pinto, Julien Barc*, Maureen Choteau-Bodor*, Camille Maiano*, Matthias Dereli*, Vincent Probst*, Jean-Baptiste Gourraud*, Jérôme Montnach*.
*l'institut du thorax members
What is CPVT?
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a rare inherited heart disease, affecting approximately 1 in 10,000 people in Western countries. Although the heart appears structurally normal, the disease is characterized by an electrical abnormality that causes severe arrhythmias, often triggered by stress or physical exertion. As a result, it puts otherwise healthy children or young adults at high risk of sudden cardiac death.
Despite ongoing research, managing CPVT remains challenging. The condition often goes undetected in routine examinations, and patients may show no clinical symptoms before the onset of sudden death. Even after diagnosis, arrhythmias are difficult to predict. Medication alone is not always sufficient to control the risk of sudden death, and implantation of a defibrillator may sometimes be necessary. In about 60% of cases, CPVT is linked to mutations in the RYR2 gene, but this does not reliably predict the patient’s risk of arrhythmia.
Better prediction of arrhythmic risk and sudden cardiac death is therefore crucial to improve diagnosis and patient care. Identifying new molecular mechanisms will also help develop more targeted therapies.
