RaDaR a natonal web based data collecton for rare kidney diseases - - PowerPoint PPT Presentation

RaDaR – a natonal web based data collecton 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
• perate 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 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

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