Aim To develop a mechanism for optimising the study of rare renal disease in the UK. To maximise the potential by building UK-wide patient cohorts and identifying centres of laboratory and clinical expertise to undertake multi-faceted research.
Methodology The UK Renal Registry provides an infrastructure that is sustainable. It provides logistical support in a Caldicott guardian, data managers and a contracted web designer. Financial support came from the MRC patient cohort initiative. The registry has the backing of the Renal Association (representing the renal community – both paediatric and adult). The registry is overseen by a Rare Disease Committee with clinician and patient representation. This has received significant further financial support from a patient organisation, the British Kidney Patient Association. Study groups are formed by clinicians and/or scientists from throughout the UK who share a field of interest – calls to join are made through the Renal Association and collaborations are encouraged. Clinical data is entered on the web-based database by the local teams, tissue samples are sent to the study group and disseminated as appropriate for work on genotyping (including utilising next generation sequencing) and biomarkers of disease. Where appropriate clinical trials will be run by the study group and links fostered with the pharmaceutical industry.
Results Two pilot projects are in process, recruiting patients from around the UK with MembranoProliferative GlomeruloNephritis and Childhood Steroid Resistant Nephrotic Syndrome – in 6 months a total of 100 patients have been recruited from an expected cohort of 350. They are studying phenotype variation, genotype and developing biomarkers of disease. Future aims include initiation of clinical trials. Further study groups and associated research projects are in set-up for Renal Vasculitis, HNF -1β and quality of life study in patients on renal replacement therapy. Formation of further groups is encouraged and supported by the Rare Disease Committee.
Conclusion Utilising existing platforms and with generous support for initiation, this project demonstrates a model for design of a sustainable registry which allows for cohort development in multiple diseases and fosters research partnerships throughout the UK and with the pharma industry.