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

NCT06945081 | Recruiting

• 2 other identifiers: 25CH057ANSM
• Study Type: interventional
• Target: 120
• Locations: 1 country
• Sites: 2

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.

Conditions

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

Keywords

Cutaneous elastopathy

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (2)

• Skin tension indices measurement on silicone casts

  Year 1

• Skin tension indice measurement with confocal laser

  Year 1

Study Arms (2)

D-penicillamine

EXPERIMENTAL

Patients with Wilson's disease treated with D-penicillamine for various exposure times

Other: Preparation of forearm molds with SILFLO® silicone

Healthy patients

ACTIVE COMPARATOR

Patients not diagnosed with wilson's disease and not receiving treatment that may affect skin elasticity

Other: Preparation of forearm molds with SILFLO® silicone

Interventions

Preparation of forearm molds with SILFLO® silicone OTHER

Preparation of forearm molds with SILFLO® silicone (MONADERM, Monaco), CE-marked and already used routinely in dermocosmetics. These molds will, then, be analyzed.

D-penicillamine; Healthy patients

Eligibility Criteria

• Age: 12 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Centre Hospitalier Universitaire de Saint Etienne: lead

Study Sites (2)

Hospices Civils de Lyon

Bron, 69677, France

RECRUITING

Hôpital Nord CHU de Saint-Étienne

Saint-Etienne, 42055, France

NOT YET RECRUITING

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

Study Officials

• JEAN-LUC PERROT, PHD

  Service de Dermatologie, Hôpital Nord CHU de Saint-Étienne 42055 SAINT-ETIENNE Cedex 2

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Jean Luc PERROT, PHD

CONTACT

(0)4 77 82 83 33; j.luc.perrot@chu-st-etienne.fr

Eduardo COUCHONNAL-BEDOYA, MD

CONTACT

(0)4 72 35 70 50

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: SUPPORTIVE CARE
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: 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).

Study Record Dates

• First Submitted: April 18, 2025
• First Posted: April 25, 2025
• Study Start: November 28, 2025
• Primary Completion (Estimated): June 1, 2026
• Study Completion (Estimated): June 1, 2026
• Last Updated: January 23, 2026

Record last verified: 2026-01

Locations

FR (2)