RecruitingNot ApplicableNCT06945081

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

Sponsor

Centre Hospitalier Universitaire de Saint Etienne

Enrollment

120 participants

Start Date

Nov 28, 2025

Study Type

INTERVENTIONAL

Conditions

Wilson Disease D-Penicillamine Effect of D-penicilline on Cutaneous Elastity of Wilson's Patient

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.

Eligibility

Min Age: 12 Years

Inclusion Criteria14

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 Criteria8

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

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Interventions

OTHERPreparation 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.