cartouche ECN WORKSHOP
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Toward a Federated, Platform for Harmonised Phenotyping and Longitudinal Study of Calcium Pyrophosphate Deposition Disease (CPPD)

 

Delphine S. Courvoisier 1,2, Tristan Pascart 3, Charlotte Jauffret 3, Hang-Korng Ea 4, Florian Kollert 5, Augustin Latourte 4, Kim Lauper 1,2

 

Affiliation(s):

1. Division Of Rheumatology, Geneva University Hospitals, Switzerland
2. Faculty Of Medicine, University Of Geneva, Switzerland
3. Department Of Rheumatology, Hôpital Saint-philibert, Lille Catholic University, 59160 Lille, France
4. Service De Rhumatologie, Hôpital Lariboisière, Université Paris Cité, Paris, France.
5. Department Of Rheumatology, University Hospital Basel, Basel, Switzerland

 

 

Calcium pyrophosphate deposition disease (CPPD) is a common and heterogeneous crystal arthropathy, yet its epidemiology, phenotypic spectrum, and longitudinal trajectories remain poorly characterised due to fragmented data sources and limited standardisation across centres. 

Objectives: The goal of this abstract is to propose the development of a shared, federated, and scalable CPPD research platform designed to harmonise data from multiple national and international CPPD registers and enable large-scale, collaborative studies.

Status: This project is ongoing with a consortium being consolidated currently.

Methodology: The first axis of the project focuses on building an open federated infrastructure based on a common data model (e.g. OMOP), allowing participating centres to retain local data governance while enabling interoperable analytics. This platform will facilitate the integration of existing and future CPPD registries and provide a sustainable framework for international collaboration.

The second axis aims to validate and extend the automated CPPD register initially developed in Geneva, with deployment in additional sites (Paris, Basel, Lille). Building on previous work, we will assess the performance and generalisability of large language models to improve case identification, diagnostic accuracy, and automated phenotyping, including CPPD subtypes and joint involvement. In parallel, exploratory work in Geneva using AI-based analysis of cerebral and cervical CT scans for the detection of cervical chondrocalcinosis may contribute novel imaging biomarkers for disease evolution.

The third axis involves integration of biobanking data, aligned with the CAPYCH cohort strategy, a French prospective cohort,  including DNA, RNA, metabolomics and whole blood.This will enable translational analyses linking clinical phenotypes with biological characteristics.

Finally, we will compare automated register-derived phenotypes with prospectively collected CAPYCH cohort data to describe CPPD trajectories from asymptomatic chondrocalcinosis to clinical disease, identify epidemiological patterns, and explore risk factors. 

Significance of the project: By combining federated real-world data, prospective deep phenotyping, and biobanking within a shared collaborative framework, this project aims to establish a sustainable international infrastructure to advance understanding of CPPD pathophysiology and longitudinal evolution. Designed as a scalable and collaborative framework, the initiative will be open to participation from additional centres, thereby fostering data sharing, methodological standardisation, and long-term international collaboration in CPPD research.

 

 

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