Data is being used to find out how many people in England have Wilson’s disease to help improve care

A rare disease, of which there are over 6000, is one that affects a small number of people in a population. Despite the name, it may surprise you to know that globally rare diseases affect around 400 million people. Understanding rare diseases is a challenge that requires shared knowledge, often in the form of disease registries. To celebrate Rare Diseases Day, which takes place on the 29th February 2020, we highlight how the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) is working with partners to include Wilson’s Disease in our expanding data collection.

What is Wilson’s Disease?

Wilson’s Disease (WD) is a genetic disorder that causes individuals to develop a build-up of copper. Copper is essential to maintain health in small amounts and this is tightly balanced by the body.  People with WD inherit changes, called mutations, in the gene responsible for balancing copper in the body. This leads to inadequate copper removal from the body which is then stored in organs, leading to harmful effects. Symptoms from WD vary depending on which organ the copper is stored in and range from problems with movement and tremors, to psychiatric conditions. In some patients, it causes irreversible liver damage (cirrhosis) and even liver failure meaning that some people need a liver transplant.  People with WD require lifelong treatment with medications to help remove the excess copper, called chelators, or their condition will be fatal.

Why is data on Wilson’s Disease needed?

It is estimated that 1 in 30,000 people are affected by WD in the UK. But this figure is fiercely debated, and the true numbers are unknown. As with most rare diseases, health data are disjointed because patients are treated at hospitals throughout the NHS with many, except the larger centres, looking after only a few patients.  For the first time, NCARDRS will be able to collect and streamline data from all these cases and this information will be used to improve patient care and empower affected individuals and treating clinicians.

What are the benefits of better data on Wilson’s Disease?

The most important and overall aim of the is to improve patient outcomes in this rare but potentially life-threatening condition. To do this we need to fully understand the cause, also known as the natural history, of WD in our population. Health data collected by NCARDRS will help us achieve this goal by providing answers to vital questions that have remained unanswered until now. This is not limited just to how many patients in England are affected, but also includes:

  • What ages do patients show symptoms?
  • Are there delays in diagnosis?
  • What medications do patients take to treat their disease and does this influence their outcomes?

What the doctors say  

Dr Griffiths, Consultant Hepatologist at Addenbrooke’s Hospital and the Clinical Lead for the Wilson’s Disease Special Interest Group (WDSIG):

Including Wilson’s Disease as part of the national registry will enable us to look at the outcomes for patients across England, something we have not been able to do before. We can use the data collected to look at which patients with WD do better and what changes we can implement to improve the outcomes for those severely affected by the disease. Patient data will also help address equity of access to ensure that all patients, no matter where they are looked after, have access to specialist services such as genetic testing and transplant services. Finally, the registry will be invaluable in supporting the need for further research into Wilson’s and helping to advocate for newer treatments to improve outcomes even further.

What the patients say

Valerie Wheater, WD Patient Register Co-ordinator at The Wilson’s Disease Support Group UK says:

The Wilson’s Disease Support Group – UK (WDSG-UK) welcomes the initiative of NCARDRS in using Wilson’s disease as a model for establishing how many people in the UK suffer from a particular rare disorder.  Wilson’s disease is a very complex, rare disease with patients presenting with diverse symptoms at any age between 3-80.  The more information acquired about our patients, the more that can be done to improve diagnosis, care and treatment for all.  

What data is involved and how is this collected?

Creating a registry when the number of patients we are looking for are unknown requires a creative but thorough approach. NCARDRS have legal permission granted under section 251 of the NHS Act 2006 to collect and hold data about known or suspected cases of WD. Clinicians in the NHS in England report these cases to NCARDRS. This has not been without its limitations and so we have also used several other routes including collecting data from inpatient hospital activity (HES), death certificates, GP prescriptions, genetic tests, and research studies with plans to expand as the project develops. These diverse health data sources are being compared and combined to identify cases.  This will ensure that we’re collecting complete and high quality data. All patient data is confidential and stored securely with strict restrictions on access.

Who funded and collaborated on this work?

NCARDRS is part of Public Health England, which is an executive agency of the Department of Health and Social Care.  Several other organisations have also been crucial in adding WD to NCARDRS expanding rare disease work and NCARDRS wishes to thank them for their continued efforts.

The Wilson’s Disease Support Group (WDSG-UK), who provide crucial support to WD patients and their families, have been instrumental in spreading the word about NCARDRS to their members and giving us a forum to share our findings with them.

We also actively engage with clinicians looking after people with WD, as part of the Wilson’s Disease Special Interest Group (WDSIG). This is supported by BASL, the British Association for the Study of Liver, a non-profit association dedicated to the advancement of hepatology. Through the WDSIG, clinicians have not only reported cases, but have kept the registry at the forefront of discussions nationally.