Rare Disease Research Catalyst Consortium

Rare diseases each affect less than 5 in 10000 people, with about 300,000 Irish people estimated to be living with rare disease. Under the Cross Border Directive for access to healthcare, the European Union established 24 European Reference Networks (ERNs) for rare disease to enable equity of access to healthcare across the EU for all citizens, coordinated by the Commission and governed by the ERN Board of Member States. There are 18 Irish ERN sites, 15 established in 2022. The European Joint Partnership on Rare Disease (EJPRD) is a programme to put research structure in place for progress, innovation and benefit to those living with rare diseases. Its follow-up Partnership project will use the ERNs to embed rare
disease research further across Europe, the existing virtual data platform is to be expanded under RD partnership and the European Rare Disease Registry Infrastructure (ERDRI).

The Rare Disease Research Catalyst Consortium is a group of Irish-based healthcare workers, researchers and patients working together to 1) increase the influence of rare disease patients in RD research and policy 2) increase Irish engagement with national and international networks including the Rare Disease Clinical Trial Network and ERNs 3) build rare disease research activity and excellence in Ireland, enabling engagement with the upcoming European Rare Disease Partnership and 4) open and extend communications within Ireland and with international stakeholders to further these aims. This will be achieved by a leadership group including ERN lead Irish doctors, researchers and patients. The project manager will link the research team with the ERNs, the Rare Disease Research Partnership, the Rare Disease Clinical Trial Network and identified stakeholders.

There will be work packages in:
Governance - providing oversight and quality monitoring of the project, liaison, and communication with stakeholders.

‘Unsolved’ patient cases – a research pathway for those without a clinical diagnosis. This will pilot repatriation and reanalysis of Irish patient data from international clinical labs and demonstrate what will be needed for a future clinical pathway; it will enable Ireland to contribute to WP7 of the EU4Health Joint Action Integration grant.

Data co-ordination – data support service to RD researchers including data impact assessment support, ethical approval paperwork for Irish use of EU registries, making existing Irish registries interoperable with EU under FAIR principles, mapped to the expansion of the European virtual data platform.

Patient and public involvement – establish an Irish Patient Advocacy Group, work with EURORDIS to refine, test and validate RD-Patient Reported ExperienceMeasures, work with ERICA to explore and report use of Patient Centred Outcome Measures in RD medication national reimbursement decisions; and

Training of early career researchers – to design a postgraduate rare disease research module between UCD and TCD, provide fellowships for RD early career researchers, increase Irish trainee uptake of EJPRD training resources, networking grants, ERN travel awards.

The appointment of 5 research coordinators will deliver capacity for this work at the 5 hospital ERN lead sites.

Award Date: 22 September 2023
Award Value: €2,996,886.91
Principal Investigator: Professor Rachel Crowley
Host Institution: University College Dublin
Scheme: Rare Diseases Research and Innovation Catalyst Awards (RDCat) 2023