French Wilson Disease Registry (WIL-FR)

Registre Wilson France

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.

Study Overview

• Status: Recruiting
• Conditions: Wilson Disease
• Intervention / Treatment: Other: Recording of pathology-related information on the Wilson Register

• Study Type: Observational
• Enrollment (Estimated): 1000

Contacts and Locations

• Study Contact: Name: Aurélia Poujois, MD, PhD; Phone Number: +33 (0)148036656; Email: apoujois@for.paris
• Study Contact Backup: Name: Amelie Yavchitz, MD; Phone Number: +33 (0)148036454; Email: ayavchitz@for.paris

Study Locations

• France
  • Ile-de-France
    • Paris, Ile-de-France, France, 75019
      • Recruiting
      • Hôpital Fondation Adolphe de Rothschild
      • Contact: Aurélia Poujois, MD, PhD; Phone Number: +33 (0)148036656; Email: apoujois@for.paris
      • Contact: Amélie Yavchitz, MD, PhD; Phone Number: +33 (0)148036454; Email: ayavchitz@for.paris

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 second to 99 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

All patients suffering from Wilson disease

Description

Inclusion Criteria:

• All patients suffering from Wilson disease

Exclusion Criteria:

• Lack of written consent from the patient or their legal representative

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Recording of pathology-related information on the Wilson Register	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.	1 hour

Collaborators and Investigators

• Sponsor: Fondation Ophtalmologique Adolphe de Rothschild

Publications and helpful links

Helpful Links

• Wilson France Register

Study record dates

Study Major Dates

• Study Start (Actual): January 1, 2005
• Primary Completion (Estimated): January 1, 2030
• Study Completion (Estimated): January 1, 2030

Study Registration Dates

• First Submitted: February 4, 2022
• First Submitted That Met QC Criteria: February 7, 2022
• First Posted (Actual): February 9, 2022

Study Record Updates

• Last Update Posted (Estimated): December 5, 2024
• Last Update Submitted That Met QC Criteria: December 3, 2024
• Last Verified: June 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Digestive System Diseases; Neurodegenerative Diseases; Liver Diseases; Movement Disorders; Heredodegenerative Disorders, Nervous System; Basal Ganglia Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Metal Metabolism, Inborn Errors; Hepatolenticular Degeneration
• Other Study ID Numbers: CD/EB_19-003_APS

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No