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

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.

Study Overview

• Status: Recruiting
• Conditions: Wilson Disease; D-Penicillamine; Effect of D-penicilline on Cutaneous Elastity of Wilson's Patient
• Intervention / Treatment: Other: Preparation of forearm molds with SILFLO® silicone

• Study Type: Interventional
• Enrollment (Estimated): 120
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Jean Luc PERROT, PHD; Phone Number: +33 (0)4 77 82 83 33; Email: j.luc.perrot@chu-st-etienne.fr
• Study Contact Backup: Name: Eduardo COUCHONNAL-BEDOYA, MD; Phone Number: +33 (0)4 72 35 70 50

Study Locations

• France
  • Bron, France, 69677
    • Recruiting
    • Hospices Civils de Lyon
    • Contact: Eduardo COUCHONNAL-BEDOYA, MD; Phone Number: +33 (0)4 27 35 70 50; Email: eduardo.couchonnal-bedoya@chu-lyon.fr
  • Saint-Etienne, France, 42055
    • Not yet recruiting
    • Hôpital Nord CHU de Saint-Étienne
    • Contact: JEAN-LUC PERROT, PHD; Phone Number: +33 (0)4 77 82 83 33; Email: j.luc.perrot@chu-st-etienne.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes

Description

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 Plan

How is the study designed?

Design Details

• Primary Purpose: Supportive Care
• Allocation: Non-Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: D-penicillamine; Patients with Wilson's disease treated with D-penicillamine for various exposure times	Other: Preparation of forearm molds with SILFLO® silicone; Preparation of forearm molds with SILFLO® silicone (MONADERM, Monaco), CE-marked and already used routinely in dermocosmetics. These molds will, then, be analyzed.
Active Comparator: Healthy patients; Patients not diagnosed with wilson's disease and not receiving treatment that may affect skin elasticity	Other: Preparation of forearm molds with SILFLO® silicone; Preparation of forearm molds with SILFLO® silicone (MONADERM, Monaco), CE-marked and already used routinely in dermocosmetics. These molds will, then, be analyzed.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Skin tension measurement	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.	At inclusion

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Skin tension indices measurement on silicone casts	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).	Year 1
Skin tension indice measurement with confocal laser	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	Year 1

Collaborators and Investigators

• Sponsor: Centre Hospitalier Universitaire de Saint Etienne
• Investigators: Principal Investigator: JEAN-LUC PERROT, PHD, Service de Dermatologie, Hôpital Nord CHU de Saint-Étienne 42055 SAINT-ETIENNE Cedex 2

Study record dates

Study Major Dates

• Study Start (Actual): November 28, 2025
• Primary Completion (Estimated): June 1, 2026
• Study Completion (Estimated): June 1, 2026

Study Registration Dates

• First Submitted: April 18, 2025
• First Submitted That Met QC Criteria: April 18, 2025
• First Posted (Actual): April 25, 2025

Study Record Updates

• Last Update Posted (Actual): January 23, 2026
• Last Update Submitted That Met QC Criteria: January 21, 2026
• Last Verified: January 1, 2026

More Information

Terms related to this study

• Keywords: Cutaneous elastopathy
• 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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hepatolenticular Degeneration
• Other Study ID Numbers: 25CH057; ANSM (Other Identifier: 2025-A02220-49)

Drug and device information, study documents

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