OBJECTIVES. To help researchers identifying the relevant measures, domains or items for the evaluation of orphan drugs (OD), Orphanet and Mapi Research Trust (MRT) have decided a joint effort to connect their databases (Orphadata and PROQOLID). Orphanet adapted the WHO International Classification of Functioning, Disability and Health (ICF) indexing, for a codification of rare diseases (RD) impacts on patient’s lives. Our project is to apply Orphanet’s approach to code the PRO measures (PROMs) included in PROQOLID, and ultimately to bridge the two databases based on disease codes (e.g., PROQOLID PROM “xx-QOL” has been developed in ORPHANET RD “ORPHA:yyy”), or on function codes.

METHODS. The preliminary steps involved 1) mapping taxonomies and 2) performing inventories. The taxonomy used in PROQOLID to qualify RDs was reviewed and mapped to Orphanet’s. Inventories involved: a) In Orphanet, listing all diseases indexed with the adapted ICF, and the functions impacted; b) In PROQOLID, identifying all PROMs developed for RDs; c) Listing all products approved by the FDA and EMA (from 01/2002 to 06/2017) with an OD designation and with a PRO claim.

RESULTS. Out of the 6200 RDs listed in Orphanet, 530 were indexed with the adapted ICF. Three domains are predominant: social life (72% of the diseases mapped), daily activities (67%), and motor skills (62%). In PROQOLID, 55 RDs for which PROMs were developed (n=136) were identified, among which the most frequent were Anemia, Sickle Cell (16) and hemophilia A and B (14). The EMA and FDA labels review showed that 17.4 % of the OD included a PRO claim. PROMs used in labels were primarily focusing on symptoms, rarely on functioning or health-related quality of life.

CONCLUSIONS. Those preliminary steps are essential to provide a picture of the “rare” context in terms of diseases, measures and products. Coding examples will be presented.