Wilson Disease
Conditions
Brief summary
This registry concerns adults and children with Wilson's disease. The collection of a large amount of data will allow a better understanding of the epidemiology of this rare disease, in particular the age of onset according to the hepatic or hepato-neurological forms, but also the geographical distribution of patients consulting in France. This database will also make it possible to know all the therapies prescribed to Wilsonian patients. The genetic study of these patients will make it possible to specify the various genetic mutations involved in Wilson's disease. The information (clinical, biological, radiological and genetic) relating to the disease will be entered by a doctor or a professional specialising in Wilson's disease.
Interventions
OTHERRecording of pathology-related information on the Wilson Register
Age, gender, date of diagnosis, clinical symptoms, ethnic charateristics and family tree will be collected and recorded on the Wilson Register during routine clinical care
Sponsors
Fondation Ophtalmologique Adolphe de Rothschild
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
0 Years to 99 Years
Healthy volunteers
No
Inclusion criteria
* All patients suffering from Wilson disease
Exclusion criteria
* Lack of written consent from the patient or their legal representative
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Recording of pathology-related information on the Wilson Register | 1 hour | The patient's age, sex, date of diagnosis, clinical symptoms, family tree and ethnic characteristics are collected by a physician or professional specialising in Wilson's disease during a routine care consultation. |
Countries
France
Contacts
Primary ContactAurélia Poujois, MD, PhD
Backup ContactAmélie Yavchitz, MD
Outcome results
None listed