D-Penicillamine, Effect of D-penicilline on Cutaneous Elastity of Wilson's Patient, Wilson Disease
Conditions
Keywords
Cutaneous elastopathy
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.
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.
Sponsors
Centre Hospitalier Universitaire de Saint Etienne
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
SUPPORTIVE_CARE
Masking
NONE
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).
Eligibility
Sex/Gender
ALL
Age
12 Years to No maximum
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Skin tension measurement | At inclusion | 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Skin tension indices measurement on silicone casts | Year 1 | 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). |
| Skin tension indice measurement with confocal laser | Year 1 | 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 |
Countries
France
Contacts
CONTACTJean Luc PERROT, PHD
CONTACTEduardo COUCHONNAL-BEDOYA, MD
PRINCIPAL_INVESTIGATORJEAN-LUC PERROT, PHD
Service de Dermatologie, Hôpital Nord CHU de Saint-Étienne 42055 SAINT-ETIENNE Cedex 2
Outcome results
None listed