A Patients and Families Support Group

A UK website about atypical Haemolytic Uraemic Syndrome (aHUS)

Which Registries for aHUS?

This page is to  provide information and advice about Patient Registries.

  • The UK Registry for Rare Kidney Diseases., also called RaDaR,- aHUS is listed as one of the rare diseases which are permitted to be in the Registry. This is the most important for UK aHUS researchers and is supported by the Rare Disease Group for aHUS
  • aTypical Hemolytic Uremic Syndrome (aHUS Registry)- managed by Alexion it is an “Observational, Non-Interventional, Multi-Center, Multi-National Study of Patients With aTypical Hemolytic Uremic Syndrome”  with aim of recruiting 2000 patients before the study ends in 2023.According to Johnson et al just 10%  of the target patients had been recruited by September 2013.
  • 100000 Genomes Project – managed by a new company set up by the Department of Health to sequence 100,000 personal DNA codes – known as a genomes – of patients over the next five years. The focus will be on those with rare diseases and cancers.

THE NATIONAL (UK) REGISTRY FOR RARE KIDNEY DISEASES Acccrding to rare renal the National(UK) Registry of Rare Kidney Diseases (RaDaR) is an initiative by UK kidney specialists (the Renal Association). It is designed to pull together information from patients who have certain rare kidney diseases. This will give a much better understanding of how these illnesses affect people. It will also speed up research. This work is done in partnership with patients. Where the research leads to practical benefits, such as better diagnosis, treatments or general advice this will be publicised on this website. RaDaR allows information to be collected from patients with rare diseases. This information is used by expert groups appointed by the Renal Association. These groups are called Rare Disease Groups (RDGs). They  consist of clinicians, scientists and patient representatives.  RDGs provide dependableinformation on tests and treatment, research and development.

Benefits of participating in the registry

  • You and your kidney specialist have access to the expertise of the RDG.
  • You will be invited to occasional local or national events with regard to your condition.
  • You will be helping other people with the same condition. Your data will contribute to the body of information on which future developments depend.
  • You will receive information about research projects that you might like to join
  • You will be given a login that allows you to access your own clinical data online if you wish.

How to participate in the registry

Guidance and instruction  for patients and clinicians on how to register including consent forms  are set out on the Rare Renal website and can be accessed by clicking here.

ATYPICAL HEMOLYTIC-UREMIC SYNDROME(aHUS) REGISTRY

This registry sometimes referred to as an Alexion Registry  has an official title of  An Observational, Non-Interventional, Multi-Center, Multi-National Study of Patients With aTypical Hemolytic-Uremic Syndrome (aHUS Registry) and is officially a clinical trial listed by ClinicalTrials.gov. It was established in 2012 and will continue to recruit until 2023 and the final outcome will be published in 2025. By that time it is expected there will be 2000 patients registered. Although sponsored by Alexion the data is being stored by Ohio State University. Full information can be read about it on ClinicalTrials.gov website by clicking  here. The registry is being overseen by a Scientific Advisory Board of International aHUS clinical experts.

Some  data output from the Registry can be seen by clicking here

 

GENOMICS ENGLAND

Genomics England is a company owned by the Department of Health and was set up to deliver the 100,000 Genomes Project.  This flagship project will sequence 100,000 whole genomes from NHS patients by 2017.

Genomics England has four main aims:

  • to bring benefit to patients
  • to create an ethical and transparent programme based on consent 
  • to enable new scientific discovery and medical insights
  • to kick start the development of a UK genomics industry

The project is focusing on patients with rare diseases, and their families, as well as patients with common cancers

aHUS patients for whom no identified complement genetic mutation has yet been found are to be included in the scope of the project to see if full genome screening provides answers to why they had an episode of aHUS. A study is also taking place on Anti-Factor H Antibody mediated aHUS to see if  genetic factors help precipitate the creation of these antibodies so damaging for 10 % of aHUS patients.