Development and validation of a Relapsing Polychondritis disease-specific Quality of Life instrument (ERN ReCONNET RP-QoL)
Laurent Arnaud, Oliver Sander, Laura Damian, Cristina Pamfil, Francesca Crisafulli, Raquel Faria, Sofia Silva-Ribeiro, Jean-Charles Piette, Alexis Mathian, Marcella Ferrada, Jun Shimizu, Aman Sharma, Lou Kawka, Cédric Sztejkowski, Christina Dusing, Thomas Rose, Antonio Lamas, Carlos Vasconcelos, Paolo Semeraro, Alba-Chiara Pozzi, Teodora Neagu, Mihaela Resteu, Arola Armengou, Ana del Cielo Perez Jaen, Guillem Policarpo Torres, Hervé Devilliers, Lisa Matthews, Camelia Bucsa, Simona Rednic, Philippe Mertz, , Laurent Arnaud, Oliver Sander, Laura Damian, Cristina Pamfil, Francesca Crisafulli, Raquel Faria, Sofia Silva-Ribeiro, Jean-Charles Piette, Alexis Mathian, Marcella Ferrada, Jun Shimizu, Aman Sharma, Lou Kawka, Cédric Sztejkowski, Christina Dusing, Thomas Rose, Antonio Lamas, Carlos Vasconcelos, Paolo Semeraro, Alba-Chiara Pozzi, Teodora Neagu, Mihaela Resteu, Arola Armengou, Ana del Cielo Perez Jaen, Guillem Policarpo Torres, Hervé Devilliers, Lisa Matthews, Camelia Bucsa, Simona Rednic, Philippe MertzAbstract
Objectives
Relapsing polychondritis (RP) is a rare, multisystem inflammatory disease characterized by heterogeneous clinical manifestations and a substantial impact on patients’ daily functioning and well-being. Health-related quality of life (HR-QoL) in RP remains insufficiently characterized, and no disease-specific measurement tool is available so far. This study aimed to develop and validate the RP-QoL, a multilingual, patient-reported outcome instrument specifically designed to assess HR-QoL in individuals with RP.
Methods
The RP-QoL was developed within the European Reference Network ReCONNET using a structured four-step approach: (1) identification of relevant HR-QoL domains through systematic literature review, an international patient survey, and expert consensus; (2) item generation; (3) pilot testing including cognitive debriefing; and (4) comprehensive psychometric validation. Validation analyses included assessment of internal consistency, structural validity, construct validity, convergent validity with the SF-36, and criterion-related validity.
Results
Domain identification incorporated input from 274 patients across 22 countries, leading to a 31-item pilot questionnaire with a 28-day recall period and 5-point response scale. Cognitive debriefing confirmed clarity, relevance, and feasibility. Validation in 239 patients from 19 countries (median age 55 years; 80% female) demonstrated excellent internal consistency (Cronbach’s α = 0.96). Exploratory factor analysis supported near-unidimensionality, with the first factor explaining 46.6% of variance. RP-QoL scores correlated strongly with disease impact (ρ = −0.62, p< 0.0001) and SF-36 physical (ρ = 0.65) and mental (ρ = 0.55, p< 0.0001) components (both p< 0.0001, p< 0.0001). Discriminative ability was high (AUC = 0.87).
Conclusion
The RP-QoL is the first validated, disease-specific HR-QoL instrument for RP, with robust psychometric performance and applicability in both clinical practice and research.