Facilitating and Accelerating Patient-Centered Outcomes Measures Awareness and Use in Clinical Research in Rare Diseases


Desvignes-Gleizes C1, Mc Donough G2, Serriere-Lanneau V2, Sherafat-Kazemzadeh R3, Rath A2, Bothorel S3
1Mapi Research Trust, Lyon, 69, France, 2Inserm | US14 - Orphanet, Paris, France, 3Mapi Research Trust, Lyon, France

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.

Conference/Value in Health Info

2023-11, ISPOR Europe 2023, Copenhagen, Denmark

Value in Health, Volume 26, Issue 11, S2 (December 2023)




Clinical Outcomes, Methodological & Statistical Research, Organizational Practices, Patient-Centered Research

Topic Subcategory

Academic & Educational, Clinical Outcomes Assessment, Patient-reported Outcomes & Quality of Life Outcomes, PRO & Related Methods


Pediatrics, Personalized & Precision Medicine, Rare & Orphan Diseases

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