Join us for our poster presentation

Friday March 17th, poster session D, 12:00 to 13:30


Development of a Patient-Reported Outcome Measures (PROMs) repository for use in Rare Diseases (RD)

Céline Desvignes-Gleizes 1 , Mar Mañú Pereira , Sonia Bothorel 2,3 , Mariangela Pellegrini 2,4 , Gavin Mc Donough 5 , Caterina Lucano 5 1 , Ana Rath 5

1 Mapi Research Trust (MRT), Lyon, France; 2 European Reference Networks - EuroBloodNet; 3 Vall d'Hebron Institut de Recerca, Barcelona, Spain; 4 AP-HP Hôpital Saint Louis, Paris, France; 5 INSERM, US14-Orphanet, Plateforme Maladies Rares, Paris, France.

Introduction: The European Rare Disease Research Coordination and Support Action (ERICA) consortium aims at promoting and disseminating the adoption of standardized PROMs for rare diseases. The PatientCentred Research group worked at maximizing existing knowledge on RD and optimizing use of existing PROMs to develop a PROMs Repository, which supports the identification of PROMs eligible for use in RD clinical research.

Method: First, among the 4,000 questionnaires described in the Mapi Research Trust PROMs database, PROQOLID™, we have selected PROMs developed and validated for rare diseases and PROMs measuring specific functional impacts (such as mobility, self-care or communication) and ERN concepts of interest. Second, we conducted a survey among European Reference Networks and patient organisations to collect additional PROMs of interest. Third, to extend the identification of eligible PROMs suitable for RD, a Multiple Factorial Analysis (MFA) has been performed to group together RD sharing similar functional impacts in clusters.

Results: 279 PROs developed in RD, 151 extra non-RD PROs measuring functional impacts and 160 measuring concepts of Interest for ERN (e.g. Burden, Self-efficacy, Adherence, Independence) were selected from PROQOLID™. The ERN survey identified 211 additional PROs. The 801 identified PROs are now described in the ERICA PROs Repository, in a user- friendly interface allowing for quick and refined searches for relevant PROMs ( Within PROQOLID™, there is additional PROs information, which can help ERNs decide if the selected PRO is well suited to their needs. The clustering work led to the identification of 57 RD clusters sharing similar functional impacts, of which 21 include 6 to 58 RD. Further clusters analysis will be performed to identify new PROMs and proposing them in the repository.

Conclusion: The ERICA PROMs Repository is the first attempt to identify and centralize PROs of relevance for RD. As next steps, Observer-Reported Outcome measures will be included in the repository, for a use in paediatric population. Moreover, the clustering work will be implemented into the repository to extend the search results to PROMs-related RD with similar functional impacts.


For further information, please check the program of the RE(ACT) Congress & IRDiRC Conference 2023.