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

N/ACompletedNCT05312073

Assistance Publique - Hôpitaux de Paris18 enrolled

Overview

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.

Study Type

INTERVENTIONAL

Allocation

NON_RANDOMIZED

Purpose

OTHER

Masking

NONE

Enrollment

Conditions

Autosomal Recessive Congenital Ichthyosis Epidermolytic Ichthyosis

Interventions

Biological samplesOTHER

Blood samples Superficial skin Biopsy Collection of fallen squames Tapes - stripping

Skin biopsyOTHER

healthy skin from surgery interventions

Eligibility

Sex: ALLMin age: 15 YearsMax age: 80 YearsHealthy volunteers:

Medical Language ↔ Plain English

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). * Patients having a molecular diagnostic of genetic ichtyosis * 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)

Locations (1)

Saint Louis Hospital

Paris, France

Outcomes

Primary Outcomes

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.

Time frame: Up to 6 months post inclusion

Secondary Outcomes

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.

Time frame: Up to 6 months post inclusion

Phenotype of circulating PBMCS assessed by flow cytometry analysis using monoclonal Antibodies (mAbs)

Time frame: Up to 6 months post inclusion

Data from ClinicalTrials.gov

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