OBJECTIVES: Since 2017, Mapi Research Trust and Orphanet have joined forces and aligned their missions to support a common goal, the dissemination of knowledge and use of Patient-Centered Outcomes Measures (PCOMs) in rare disease (RD) research and healthcare management. The lack of awareness of PCOMs in RD is a strong limitation in patient centric clinical research. However, the development of disease-specific PCOMs for more than 7,000 RD is not a realistic objective. For this reason, we worked at increasing the visibility of existing PCOMs and optimizing their use in RD clinical research and care.

METHODS: On one hand, Mapi Research Trust aligned its nomenclature (MeSH classification) used in its Patient-Centered Outcomes Measures database PROQOLID™ with Orphanet alignments of RD nomenclature (ORPHA Code).

This alignment allows the identification in PROQOLID™ of PCOMs developed in RDs. In each RD-PCOM page a link to the related Orphanet disease page was added.

On the other hand, Orphanet identified RDs for which a PCOM was available in PROQOLID™ and applicable at group of disorders, disorders and subtypes level of Orphanet classification. On each page of identified RDs, a link to existing RD-PCOMs in PROQOLID™ was added.

RESULTS: In PROQOLID™, 537 PCOMs, including 380 Patient-Reported Outcome Measures have been identified and an Orphanet disease page link has been added. On the other hand, in Orphanet database, 685 disease pages were enriched with a link to existing RD-PCOMs in PROQOLID™.

CONCLUSIONS: Mapi Research Trust and Orphanet joint their effort in connecting their Rare Disease and PCOMs databases allowing more visibility of existing RD-PCOMs and improving their use in RD clinical care and research.