To better understand Wilson’s disease, the CRMR has set up a national anonymized register which contains details of all patients with Wilson’s disease who are being managed in France.
Two registers on Wilson’s disease have thus been set up in France:
- A national register: WILSON FRANCE
- A European register: EUROWILSON
A formal link has been established between the two registers so that French patients are automatically included in the EuroWilson database.
WHY PARTICIPATE IN THE REGISTERS?
Numerous registers are set up to focus on rare diseases; their aim is to better understand these conditions by collating clinical, biological or radiological data, etc… on the largest possible number of affected individuals.
Although the clinical presentations and biological abnormalities attached to Wilson’s disease are known, many questions remain:
- How many people are affected by Wilson’s disease in France and other European countries?
- What is the frequency of hepatic or neurological forms of the disease?
- Which are the most widely prescribed treatments?
- Are there any differences in disease course as a function of clinical symptoms, biological parameters or the type of mutation, etc.?
- Can you breastfeed if you suffer from Wilson’s disease?
Your participation in these registers is essential if we are to better understand the disease; indeed, the results will be more pertinent the more data are collected.
WHICH DATA ARE RECORDED IN THE REGISTERS?
For each patient in the register, numerous data are recorded and include:
- date of birth
- age at diagnosis
- type of the disease
- clinical and biological findings
- the WDRS score (Unified Wilson’s Disease Rating Scale) (neurological score)
- the course of the disease…
WHAT ARE THE RESULTS IN FRANCE?
Several studies have been performed since the register was set up in France:
- A first study of 282 patients was presented during a meeting of the French-speaking Neurology Association in Bordeaux, in April 2008. This work was singled out for an award by a panel of neurologists.
- A second study of 500 patients recorded by the CRMR Wilson was presented during the International Congress of Neuroepidemiology in Nice, in November 2012.
Wilson’s disease patients identified and registered between 2008 and June 2016:
Patients who have been identified but are not included in the register are reported by the doctors treating them for Wilson’s disease. These patients have not signed the consent form for inclusion in the French register.
French cohort (June 2016): 550 patients (269 male and 281 female)
13.1% of patients are diagnosed after the age of 30 years.
Wilson’s disease is not just a condition affecting young patients, although the mean age at diagnosis is 18 years.
Since the national network was set up, the time to diagnosis has diminished.
Current treatments depending on the presentation of Wilson’s disease (June 2016)
WHAT ABOUT EUROPE?
Only patients diagnosed between 2005 and 2009 are included in the European register.
During that period, 227 new cases of Wilson’s disease were recorded in Europe, mainly in Poland (57 patients) and France (35), accounting for 25.1% and 15.4% of inclusions, respectively. This does not mean that Wilson’s disease is more common in these countries, but certainly reflects how these patients are managed:
- experts working in a single centre (Poland) or in the context of a specific network (reference and expert centres) for Wilson’s disease (France).
HOW TO TAKE PART IN THE REGISTERS?
To be included in the registers, it is necessary to contact the doctors or clinical research associates at the reference centre or expert centres. With your agreement, your doctor can contact these centres.
Because the register is computerised, the French Data Protection Authority (Commission Nationale de l’Informatique et des Libertés or CNIL – accreditation no. 1343579) requires that an informed consent form be signed. Only doctors in the reference and expert centres have access to your data, which are all rendered anonymous.
If you suffer from Wilson’s disease and are not yet included in a register,
PLEASE CONTACT US!
The clinical research associates at the coordinator-site in Paris and at the constituent-site in Lyon will be able to answer any questions you may have (email@example.com for Paris, firstname.lastname@example.org for Lyon) :
- If you are a healthcare professional and wish to include one or more patients
- If you are a patient and would like to participate in research on this rare disease by being included in the register