Clinical trial NCT06945081: Wilson's Disease Treated With D-Penicillamine: Characterization of Skin Damage Secondary to Treatment by Measuring Skin Elasticity
Official title: Wilson's Disease Treated With D-Penicillamine: Characterization of Skin Damage Secondary to Treatment by Measuring Skin Elasticity
Study type: INTERVENTIONAL
Overall status: NOT_YET_RECRUITING
Phase: NA
Conditions: Wilson Disease
D-Penicillamine
Keywords: Cutaneous elastopathy
Lead sponsor: Centre Hospitalier Universitaire de Saint Etienne
Sponsor class: OTHER
First posted: 2025-04-25
Enrollment: 120
Sex: ALL
Minimum age (years): 12
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Allocation: NON_RANDOMIZED
Intervention model: PARALLEL
Intervention model description: Exploratory, prospective, matched-control study. Cohort of Wilson's disease patients undergoing treatment with D-Penicillamine matched for age and sex to a control patient, as we know that skin elasticity is modified according to the patient's age and sex. This will enable us to study primarily the effect of treatment and its duration, although we know that other factors may come into play (sun exposure, smoking/alcohol consumption, etc.).

Characterization of cutaneous side-effects of treatment by measuring skin tension lines (using a silicone mold on a small part of the skin of the forearm and cheek, enabling precise measurement of the tension lines, reproduced in these molds, by a confocal laser).
Primary purpose: SUPPORTIVE_CARE

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.


Eligibility criteria: 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

Primary outcomes:
measure: Skin tension measurement
timeFrame: At inclusion
Secondary outcomes:
measure: Skin tension indices measurement on silicone casts
timeFrame: Year 1
measure: Skin tension indice measurement with confocal laser
timeFrame: Year 1
Other outcomes:
Locations:
city: Saint-etienne
country: France
facility: Hôpital Nord CHU de Saint-Étienne
Study officials:
affiliation: Service de Dermatologie, Hôpital Nord CHU de Saint-Étienne 42055 SAINT-ETIENNE Cedex 2
name: JEAN-LUC PERROT, PHD
role: PRINCIPAL_INVESTIGATOR
References: