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

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

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

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

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

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

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

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 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

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

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