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The goal of this study is to identify important biological pathways involved in a variety of ichtyosis, using transcriptomic and proteomic techniques, with the aim of guiding the development of new therapeutis.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients with ichtyosis | Other |
| |
| Patients without ichtyosis | Other |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Biological samples | Other | Blood samples Superficial skin Biopsy Collection of fallen squames Tapes - stripping |
|
| Measure | Description | Time Frame |
|---|---|---|
| Transcript and protein levels of all genes measured by NGS mRNA sequencing and by mass spectrometry in lesioned skin biopsies | A two-fold increase or decrease in the transcript or protein levels between patients with different ARCI, EI, and between ARCI and EI patients and healthy controls (patients without ichtyosis) will allow to identify "upregulated" and "downregulated" genes. | Up to 6 months post inclusion |
| Measure | Description | Time Frame |
|---|---|---|
| Transcript and protein levels of all genes assessed by NGS mRNA sequencing and by mass spectrometry (keratinocytes) | To determine, in vitro, the contribution from ARCI and EI keratinocytes in the overall transcriptomic and proteomic signature observed in vivo. A two-fold increase or decrease in the transcript or protein levels between patients and controls (th different ARCI, EI, and between ARCI and EI patients and healthy controls (patients without ichtyosis) will allow to identify "upregulated" and "downregulated" genes. |
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Inclusion Criteria:
Exclusion Criteria:
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Saint Louis Hospital | Paris | 75010 | France |
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| ID | Term |
|---|---|
| D017488 | Hyperkeratosis, Epidermolytic |
| ID | Term |
|---|---|
| D016113 | Ichthyosiform Erythroderma, Congenital |
| D007057 | Ichthyosis |
| D012868 | Skin Abnormalities |
| D000013 | Congenital Abnormalities |
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| Skin biopsy | Other | healthy skin from surgery interventions |
|
| Up to 6 months post inclusion |
| Phenotype of circulating PBMCS assessed by flow cytometry analysis using monoclonal Antibodies (mAbs) | Up to 6 months post inclusion |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D012873 | Skin Diseases, Genetic |
| D030342 | Genetic Diseases, Inborn |
| D007232 | Infant, Newborn, Diseases |
| D007642 | Keratosis |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |