Background
Rare diseases are arbitrarily defined as having an incidence such that they cannot be studied
effectively on patient groups drawn from one or a few medical centres.
A high proportion of such disorders have a genetic background and often these diseases are
first expressed in childhood. The success of chronic and end-stage renal failure programmes
in childhood permit increased numbers of these patients to survive into adulthood. There are
13 centres for paediatric nephrology in the UK. For a rare disorder that a paediatric
nephrologist might diagnosis only once a year, and assuming 100% survival to adulthood, a
renal physician might be asked to take over such a case only once in seven or eight years of
practice. Research is hampered by this dilution of clinical experience. Similarly in adult
practice there are rare complications of diseases or their treatment so that a nephrologist
might encounter such an event less often than once in every 5 years. National aggregation of
clinical experience is essential to further study.
Research groups investigating a rare disease (Rare Disease Groups, RDGs) have difficulty
accessing patients who are widely distributed. While rare disease groups are often successful
in identifying novel genotypes in a few individuals, it is more difficult to define phenotype
and undertake phenotype-genotype correlations. Moreover, the scarcity of patients makes it
difficult to develop biomarkers or identify well-defined cohorts in which to test novel
treatments. As a result, the progression and outcome for many rare diseases are unknown and
treatment remains underdeveloped.
Purpose
The purpose of the National Registry of Rare Kidney Diseases (RaDaR; rare disease registry)
is to facilitate translational and epidemiological research into rare kidney diseases by
setting up and maintaining a comprehensive clinical database in partnership with Rare Disease
Groups.
RaDaR facilitates the identification of well-characterized cohorts of patients who may be
invited to participate in clinical trials, the development of biomarkers, phenotype-genotype
correlations or outcome studies. This will inform the development of clinical guidelines for
specific rare diseases, audit treatment and outcome and further the development of future
therapies.
RaDaR provides an infrastructure to capture both generic and disease-specific clinical
information and to collate longitudinal information. Patients and clinicians can view
information about the conditions covered by RaDaR on RareRenal.org, which links closely with
RaDaR.
RaDaR is predominately aimed at UK patients; however international recruits who are consented
in the UK by an NHS hospital are also eligible, subject to local approval.