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

Not Applicable

Completed

• Conditions: Epidermolytic Ichthyosis; Autosomal Recessive Congenital Ichthyosis
• Interventions: Other: Biological samples; Other: Skin biopsy

• Registration Number: NCT05312073
• Lead Sponsor: Assistance Publique - Hôpitaux de Paris

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2021-12-10
• Study First Submitted QC: 2022-03-28
• Study First Posted: 2022-04-05
• Study Start: 2022-12-07
• Primary Completion: 2024-04-06
• Study Completion: 2024-04-06
• Status Verified: 2024-07
• Last Update Submitted: 2024-07-15
• Last Update Posted: 2024-07-16

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 18

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)

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Patients with ichtyosis	Biological samples	-
Patients without ichtyosis	Skin biopsy	-

Primary Outcome Measures

Name	Time	Method
Transcript and protein levels of all genes measured by NGS mRNA sequencing and by mass spectrometry in lesioned skin biopsies	Up to 6 months post inclusion	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.

Secondary Outcome Measures

Name	Time	Method
Phenotype of circulating PBMCS assessed by flow cytometry analysis using monoclonal Antibodies (mAbs)	Up to 6 months post inclusion
Transcript and protein levels of all genes assessed by NGS mRNA sequencing and by mass spectrometry (keratinocytes)	Up to 6 months post inclusion	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.

Trial Locations

Locations (1)

Saint Louis Hospital; 🇫🇷 Paris, France