Not provided
| ID | Type | Description | Link |
|---|---|---|---|
| ANSM | Other Identifier | 2025-A00509-40 |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
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.
Not provided
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| D-penicillamine | Experimental | Patients with Wilson's disease treated with D-penicillamine for various exposure times |
|
| Healthy patients | Active Comparator | Patients not diagnosed with wilson's disease and not receiving treatment that may affect skin elasticity |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| 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. |
| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| Skin tension indices measurement on silicone casts | 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). | Year 1 |
Not provided
Inclusion Criteria:
Diseased patients :
Healthy volunteers :
All patients :
Exclusion Criteria:
All patients:
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Jean Luc PERROT, PHD | Contact | (0)4 77 82 83 33 | +33 | j.luc.perrot@chu-st-etienne.fr |
| Eduardo COUCHONNAL-BEDOYA, MD | Contact | (0)4 72 35 70 50 | +33 |
| Name | Affiliation | Role |
|---|---|---|
| JEAN-LUC PERROT, PHD | Service de Dermatologie, Hôpital Nord CHU de Saint-Étienne 42055 SAINT-ETIENNE Cedex 2 | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hospices Civils de Lyon | Recruiting | Bron | 69677 | France |
Not provided
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).
Not provided
Not provided
Not provided
Not provided
| Skin tension indice measurement with confocal laser | 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 | Year 1 |
| Hôpital Nord CHU de Saint-Étienne | Not yet recruiting | Saint-Etienne | 42055 | France |
|
| ID | Term |
|---|---|
| D006527 | Hepatolenticular Degeneration |
| ID | Term |
|---|---|
| D008107 | Liver Diseases |
| D004066 | Digestive System Diseases |
| D001480 | Basal Ganglia Diseases |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D009069 | Movement Disorders |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008661 | Metabolism, Inborn Errors |
| D008664 | Metal Metabolism, Inborn Errors |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
Not provided
Not provided