Calcium Pyrophosphate Deposition (CPPD) Disease (PYC-OMIC)

Calcium Pyrophosphate Deposition (CPPD) Disease : Clinical and Paraclinical Profile, Gene Expression and Metabolomics of the Acute and Chronic Clinical Phenotype

The goal of this clinical trial is to describe the transcriptomic and metabolomic profile of patients with chronic Calcium Pyrophosphate Deposition (CPPD) compared to those with acute CPPD.

The hypotheses are as follows :

• It is hypothesised that there is a transcriptomic and metabolomic signature of CPPD which explains why therapeutic responses to different anti-inflammatory treatments differ from one phenotype to another one
• It is hypothesised that the acute and chronic clinical phenotypes of CPPD have different clinical, biological and imaging characteristics, as well as a differing predisposition toward crystalline deposition and inflammatory pathway activation.

The management of participants with chronic forms of the disease included in this research was modelled on the usual recommended management, including a biological workup, joint puncture, ultrasound and radiographic workup. Double-energy CT scans and transcriptomic and metabolomic analyses on plasma are not routine tests.

Study Overview

• Status: Not yet recruiting
• Conditions: Rheumatic Diseases; Calcium Pyrophosphate Deposition Disease
• Intervention / Treatment: Genetic: transcriptomic and metabolomic analysis

• Study Type: Interventional
• Enrollment (Estimated): 137
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Marie Paule LEBITASY; Phone Number: +333 20 22 57 41; Email: Lebitasy.Marie-Paule@ghicl.net
• Study Contact Backup: Name: Marie DESOLERE; Phone Number: +33 320225931; Email: desolere.marie@ghicl.net

Study Locations

• France
  • Lomme, France, 59160
    • Hôpital Saint-Philibert (GHICL)
    • Contact: Charlotte JAUFFRET; Phone Number: +333 20 22 50 59; Email: jauffret.charlotte@ghicl.net

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Older Adult
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria - Acute forms of CPPD: retrospective part of the study

• Cases included in the COLCHICORT cohort (NCT03128905), for whom this was the first acute episode of CPPD

Inclusion Criteria - Chronical forms of CPPD : prospective part of the study

• Patients affiliated to the French social security system
• Age ≥ 65 years
• Diagnosis of chronic CPPD (recurrent acute or persistent arthritis), meeting ACR/EULAR 2023,11 classification criteria after evaluation by a rheumatologist in the rheumatology department
• Progression of CPPD rheumatism for at least 3 months and still active CPPD rheumatism, defined by a visual analogue scale (VAS) of disease activity ≥ 40 and/or presentation of at least 1 crisis over the last 3 months
• Glomerular Filtration Rate (GFR) in Chronic Kidney Disease Epidemiology (CKD EPI Collaboration) ≥ 30ml/min/1.73m2
• Minimum time between the last intake of a crisis treatment and inclusion in the study, depending on their half-life, in order to not interfere with the results of the omics analyses: 2 weeks (Nonsteroidal Anti-Inflammatory Drugs Per Os (PO) or Intramuscular (IM) or Intravenous (IV); corticosteroids PO or IV; colchicine PO; anakinra Subcutaneous (SC), 1 month (methotrexate PO, tocilizumab SC), 3 months (canakinumab SC, tocilizumab IV)
• Signed written consent for study participation

Exclusion Criteria - Acute forms of CPPD:

• Missing data concerning transcriptomic and metabolomic analyses.
• Opposition

Exclusion Criteria - For chronic forms of CPPD:

• History of gout or presence of monosodium urate (MSU) crystals on joint fluid,
• Cognitive decline (confusion and neurodegenerative diseases)
• Inability to provide informed consent and disease VAS
• Patient under guardianship or curatorship

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Basic Science
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Patients with a chronic CPPD; Patients with diagnosis of chronic calcium pyrophosphate crystal arthritis (either acute recurrent or persistent arthritis), meeting the 2023 American College of Rheumatology/European League Against Rheumatism (ACR/EULAR) classification criteria, after evaluation by a rheumatologist from the rheumatology department.	Genetic: transcriptomic and metabolomic analysis; Venous blood samples for transcriptomic and metabolomic analysis will be taken in 3 x 4 mL ethylenediaminetetraacetic acid (EDTA) tubes and stored immediately at 4°C, before being cryopreserved at -80°C in 500 μL aliquots of plasma. In addition, for transcriptomic analysis, a sample will also be taken in a Paxgen RNA tube cryopreserved at -80°C.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Transcriptomic profile	-Quantitative transcriptomic profiling (expression of the genes involved) and qualitative profiling (analysis of the sequence of variants expressed)	2 weeks
Metabolomic profile	- Metabolomic profile: quantitative assessment of the metabolites involved in each phenotype, then qualitatively grouped by activated metabolic pathway	2 weeks

Collaborators and Investigators

• Sponsor: Lille Catholic University
• Investigators: Principal Investigator: Charlotte JAUFFRET, Rheumatology Department - Hôpital Saint-Vincent - GHICL

Study record dates

Study Major Dates

• Study Start (Estimated): October 1, 2025
• Primary Completion (Estimated): May 1, 2027
• Study Completion (Estimated): November 1, 2027

Study Registration Dates

• First Submitted: May 26, 2025
• First Submitted That Met QC Criteria: May 26, 2025
• First Posted (Estimated): June 5, 2025

Study Record Updates

• Last Update Posted (Estimated): June 5, 2025
• Last Update Submitted That Met QC Criteria: May 26, 2025
• Last Verified: May 1, 2025

More Information

Terms related to this study

• Keywords: gene expression; Calcium pyrophosphate deposition disease; acute clinical phenotype; chronic clinical phenotype; metabolic expression
• Additional Relevant MeSH Terms: Crystal Arthropathies; Musculoskeletal Diseases; Arthritis; Joint Diseases; Connective Tissue Diseases; Rheumatic Diseases; Collagen Diseases; Chondrocalcinosis
• Other Study ID Numbers: RC-P00127

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No