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NCT06945081 | NOT YET RECRUITING | Wilson Disease

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

Saint Etienne University Hospital Center

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.

Condition or disease

Wilson Disease

D-Penicillamine

Intervention/treatment

Preparation of forearm molds with SILFLO® silicone

Phase

NA

Study Type : INTERVENTIONAL
Estimated Enrollment : 120 participants
Masking : NONE
Primary Purpose : SUPPORTIVE_CARE
Official Title : Wilson's Disease Treated With D-Penicillamine: Characterization of Skin Damage Secondary to Treatment by Measuring Skin Elasticity
Actual Study Start Date : 2025-06
Estimated Primary Completion Date : 2026-06
Estimated Study Completion Date : 2026-06

Information not available for Arms and Intervention/treatment

Ages Eligible for Study: 12 Years
Sexes Eligible for Study: ALL
Accepts Healthy Volunteers: 1
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
Wilson's Disease Treated With D-Penicillamine: Characterization of Skin Damage Secondary to Treatment by Measuring Skin Elasticity

Location Details

NCT06945081

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How to Participate

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Locations

Not yet recruiting

France,

North CHU Hospital of Saint-Etienne

Saint-Etienne, France, 42055