Study of in Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis

Study Overview
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Brief Summary
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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.

Official Title
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Study of In Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis

Conditions
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Autosomal Recessive Congenital Ichthyosis, Epidermolytic Ichthyosis

Intervention / Treatment
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* Other: Biological samples
* Other: Skin biopsy


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Aged 15-80 years old Having an ARCI or EI, confirmed by a molecular diagnosis of a mutation in at least one of the following genes: TGM1, ALOX12B, NIPAL4, ABCA12, keratin 1 and keratin 10) Having stopped all topical treatments in at least 1% of the total body surface (equivalent to one palm of the hand of the patient), at least 8 days before the skin biopsy (which will be performed on this untreated area). No contraindication to skin biopsy Health insurance coverage Signature of written consent Exclusion Criteria: Aged less than 15 of over 80 years old Ichtyosis without a molecular confirmed diagnosis or with a different diagnosis History, in the 8 previous days, of any topical treatment on the area intended for the skin biopsy. No health insurance coverage Pregnant or breastfeeding woman Patient under guardianship or curatorship Patient under State Medical Assistance (AME)

Ages Eligible for Study
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Minimum Age: 15 Years
Maximum Age: 80 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Other
Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Other: Patients with ichtyosis<br> | Other: Biological samples<br>* Blood samples Superficial skin Biopsy Collection of fallen squames Tapes - stripping<br>|
| Other: Patients without ichtyosis<br> | Other: Skin biopsy<br>* healthy skin from surgery interventions<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | 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 | 

Secondary Outcome Measures

| Outcome Measure | 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. | 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 |