P430 Identifying rare disease research priorities through (RAinDRoP) a rare disease research partnership. (June 2019)

• Record Type: Journal Article
• Authors: Somanadhan, Suja; Kroll, Thilo; Doris, Emma; Nicholson, Emma; Lynch, Sally Ann; Treacy, Eileen; Brinkley, Aoife; Ennis, Sean; Awan, Atif; Kennan, Avril; Garth, Vicky Mc; Mitchell, Derick
• Is Part Of: Archives of disease in childhood. Volume 104:(2019)Supplement 3
• Page Start: A324
• Page End: A324
• Publication Date: 2019-06
• Subjects: Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/archdischild-2019-epa.766
• Languages: English
• ISSNs: 0003-9888

Abstract

Abstract : Background: To date, the rare disease research community is largely fragmented in Ireland without a coherent programmatic focus. All too often, priorities for research are decided by one group of stakeholders. The James Lind Alliance (JLA) model allows us to challenge this dynamic through the Rare Disease Research Partnership (RAinDRoP) Workshop which will enable clinicians, patients and carers to work together to identify and prioritise uncertainties that could be answered by research. The RAinDRoP is a truly collaborative effort in which everybody has a voice, and it refocuses the research on the patients rather than the disease. Objectives: To identify and prioritise topics and questions in the three research areas: (1) Route to Diagnosis (2) Living with rare diseases (3) Integrated care or Holistic care. Design: A modified nominal group technique. Setting: Republic of Ireland Participants: Anyone with experience of care for patients with rare diseases including patients, carers and healthcare professionals. Results: This workshop is scheduled to take place on the 04 th of April 2019. The result is not available at the time of submission. Conclusions: This study is the first national prioritisation exercise to identify patient and healthcare professional priorities for rare diseases research. The research priority partnership will identify a range of important gaps in the existing evidence to inform (1) Pathway to Diagnosis, focusing on facilitating early, accurate diagnosis and the communication/informational challenges associated with a rare disease diagnosis (2) Supporting management and self-management of rare disease and (3) Integrated care pathways.