Wilson's Disease Treated With D-Penicillamine: Characterization of Skin Damage Secondary to Treatment by Measuring Skin Elasticity

Not Applicable

Not yet recruiting

• Conditions: Wilson Disease; D-Penicillamine

• Registration Number: NCT06945081
• Lead Sponsor: Centre Hospitalier Universitaire de Saint Etienne

Brief Summary

Wilson's disease is a genetic disorder, resulting from an anomaly present on the ATP7B gene located on chromosome 13, causing a progressive accumulation of copper in various organs such as the liver, nervous system and cornea, leading to various hepatic and neurological disorders and a systemic evolution.

Currently, the first-line treatment for this disease is D-Penicillamine, which acts by chelation and promotes copper excretion through the urine. Unfortunately, this treatment also has significant side-effects, particularly on the skin. However, the pathogenesis of elastopathy in patients with Wilson's disease has yet to be fully characterized, and needs to be better understood in order to adapt the therapeutic strategy.

A silicon mold will be made on Wilson's disease patients, enabling the skin micro-relief to be shaped, and analyzed by confocal laser in comparison with the skin of healthy volunteers.

Detailed Description

Not available

Study Timeline

• Status Verified: 2025-04
• Study First Submitted: 2025-04-18
• Study First Submitted QC: 2025-04-18
• Last Update Submitted: 2025-04-18
• Study First Posted: 2025-04-25
• Last Update Posted: 2025-04-25
• Study Start: 2025-06
• Primary Completion: 2026-06
• Study Completion: 2026-06

Recruitment & Eligibility

• Status: NOT_YET_RECRUITING
• Sex: All
• Target Recruitment: 120

Inclusion Criteria

Diseased patients :

• Patient over 12 years old
• Patient with Wilson's disease confirmed by genetic analysis
• Patient followed up in the Wilson's Disease Reference Center for his care
• Patient treated with D-Penicillamine
• Patient with no other known elastic tissue pathology

Healthy volunteers :

• Patient over 12 years old
• Patient followed up in the dermatology department of St Etienne University Hospital
• Patient matched on sex and age with a patient from the "Wilson's disease" group
• Patient with no elastic tissue pathology

All patients :

• Patient affiliated to a national social security
• Patient with written informed consent

Exclusion Criteria

All patients:

• Patient not taking a treatment (at investigator's discretion) that may modify skin elasticity
• Patient with pathological lesion(s) on forearm or cheek
• Patient with a potentially active/rejuvenative forearm or cheek treatment
• Patient having applied cream and/or make-up to the areas to be molded (forearm and cheek)
• Patient under guardianship
• Patient unable to follow study procedures
• Pregnant or breast-feeding women

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Primary Outcome Measures

Name	Time	Method
Skin tension measurement	At inclusion	Measurement of skin tension indices on a silicone cast of the inner forearm with a confocal laser expressed as a percentage (from 0 (perfect tension balance) to 100 (absolute imbalance on one tension axis)) of patients treated with D-Penicillamine and healthy patients.

Secondary Outcome Measures

Name	Time	Method
Skin tension indices measurement on silicone casts	Year 1	Measurement of skin tension indices on silicone casts of the inner and outer forearm with confocal laser and comparison between different groups of patients according to duration of exposure to treatment in subgroups: (\< to 5 years, 5 to 10 years, 10 to 15 years and 15 years and more).
Skin tension indice measurement with confocal laser	Year 1	Measurement of skin tension indices on various silicone casts of the inner and outer forearm and cheek with confocal laser and comparison between patients and age- and sex-matched control group patients

Trial Locations

Locations (1)

Hôpital Nord CHU de Saint-Étienne; 🇫🇷 Saint-etienne, France