Study of in Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis (OMICHTYOSE)

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

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 Overview

• Status: Completed
• Conditions: Autosomal Recessive Congenital Ichthyosis; Epidermolytic Ichthyosis
• Intervention / Treatment: Other: Biological samples; Other: Skin biopsy

• Study Type: Interventional
• Enrollment (Actual): 18
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Paris, France, 75010
    • Saint Louis Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 15 years to 80 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: Yes

Description

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 Plan

How is the study designed?

Design Details

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

Number of Arms

2

Arms and Interventions

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

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: Assistance Publique - Hôpitaux de Paris

Study record dates

Study Major Dates

• Study Start (Actual): December 7, 2022
• Primary Completion (Actual): April 6, 2024
• Study Completion (Actual): April 6, 2024

Study Registration Dates

• First Submitted: December 10, 2021
• First Submitted That Met QC Criteria: March 28, 2022
• First Posted (Actual): April 5, 2022

Study Record Updates

• Last Update Posted (Actual): July 16, 2024
• Last Update Submitted That Met QC Criteria: July 15, 2024
• Last Verified: July 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Skin Diseases; Congenital Abnormalities; Infant, Newborn, Diseases; Genetic Diseases, Inborn; Skin Diseases, Genetic; Skin Abnormalities; Keratosis; Ichthyosis; Ichthyosis, Lamellar; Ichthyosiform Erythroderma, Congenital; Hyperkeratosis, Epidermolytic
• Other Study ID Numbers: APHP210692

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No