RaDaR – a national web based data collection for rare kidney diseases

1. RaDaR – a national web based data collection for rare kidney diseases Moin Saleem – University of Bristol Mark Taylor – Birmingham Children’s Hospital

2. What is a rare disease? • Arbitrarily defined as having such a low incidence that it cannot be studied effectively on patients drawn from one or a few medical centres

3. Why do we need a rare disease database? • Good quality scientific and clinical information is difficult to capture • Treatment is less likely to be developed and tested; diseases are often complex in nature • Patients with rare diseases often have a sense of isolation

4. Why now? • A high proportion of rare renal diseases have a genetic background • Genetic diagnoses have revolutionised understanding and prospects • Congenital anomalies • Glomerular disease • Tubular disease • Metabolic diseases • The opportunity to understand disease is immense • All destructive kidney diseases in childhood are rare

5. Why now? (politically) • The EU proposed a Council recommendation for rare diseases, to be enacted by 2011 • Parliamentary initiative in UK has endorsed the need for a national plan • Steering group set up – Rare Disease UK • RA and BAPN will become members of this

6. Towards a Rare Disease Registry • Many specific disease registries have been assembled from time to time • Usually enthusiastic clinicians with limited, short term resources, and poor infrastructure • We need a single, sustainable registry with professional management, data security, governance and ethics • The model of the UKRR is an example of how this should be set up

7. UK Renal Rare Disease Registry (RaDaR) • An opportunity has arisen to set up and operate such a registry, operating on similar lines to UKRR • MRC and KRUK funded • Web based data collection for extensive and detailed clinical and laboratory information • Periodic updates to follow the clinical course of the patient • Linked to UKRR for long-term follow up

8. Some practicalities • Patients/carers required to give written consent for clinical details • Personal identifiers held by the Registry • Professionals will have password access, validated by nhs email addresses • Patients/carers will also have password access to their own data and disease specific information • Disease specific working groups will be interested professionals, complying with essential criteria set by the RA

9. Pilot studies – proof of concept.. • Two rare disease cohorts proposed • MPGN and FSGS • Each has its own working groups – clinicians and pathologists • Data collection and biorepository planned • Pathology classified/scored and digitally stored

10. Some Clinical and Research benefits of the Registry • A single site for patient information, clinical protocols, care pathways, drug information, up to date literature etc. • Topical and relevant audit possible for each condition • Patients empowered to enter their own data, view results (cf Renal Patient view), respond to surveys etc. • Research proposals can be designed on the basis of known patient characteristics, and continuous data collection • Grant applications more likely to succeed where patient base is well described, and availability known