French Wilson Disease Registry

NCT05231876 | Recruiting

• 1 other identifier: CD/EB_19-003_APS
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

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.

Conditions

Wilson Disease

Outcome Measures

Primary Outcomes (1)

• 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

Interventions

Recording of pathology-related information on the Wilson Register OTHER

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

Eligibility Criteria

• Age: 0 Years - 99 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

All patients suffering from Wilson disease

You may qualify if:

• All patients suffering from Wilson disease

You may not qualify if:

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

Sponsors & Collaborators

• Fondation Ophtalmologique Adolphe de Rothschild: lead

Study Sites (1)

Hôpital Fondation Adolphe de Rothschild

Paris, Île-de-France Region, 75019, France

RECRUITING

Related Links

• Wilson France Register

MeSH Terms

Conditions

Hepatolenticular Degeneration

Condition Hierarchy (Ancestors)

Liver Diseases; Digestive System Diseases; Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Movement Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Metal Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases

Central Study Contacts

Aurélia Poujois, MD, PhD

CONTACT

(0)148036656; apoujois@for.paris

Amélie Yavchitz, MD

CONTACT

(0)148036454; ayavchitz@for.paris

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 20 Years
• Sponsor Type: NETWORK
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 4, 2022
• First Posted: February 9, 2022
• Study Start: January 1, 2005
• Primary Completion (Estimated): January 1, 2030
• Study Completion (Estimated): January 1, 2030
• Last Updated: December 5, 2024

Record last verified: 2024-06

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)