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

Primary Purpose

Autosomal Recessive Congenital Ichthyosis, Epidermolytic Ichthyosis

Status
Not yet recruiting
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
Biological samples
Skin biopsy
Sponsored by
Assistance Publique - Hôpitaux de Paris
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional other trial for Autosomal Recessive Congenital Ichthyosis

Eligibility Criteria

15 Years - 80 Years (Child, Adult, Older Adult)All SexesAccepts Healthy Volunteers

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)

Sites / Locations

  • Saint Louis Hospital

Arms of the Study

Arm 1

Arm 2

Arm Type

Other

Other

Arm Label

Patients with ichtyosis

Patients without ichtyosis

Arm Description

Outcomes

Primary Outcome Measures

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.

Secondary Outcome Measures

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

Full Information

First Posted
December 10, 2021
Last Updated
March 28, 2022
Sponsor
Assistance Publique - Hôpitaux de Paris
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1. Study Identification

Unique Protocol Identification Number
NCT05312073
Brief Title
Study of in Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis
Acronym
OMICHTYOSE
Official Title
Study of In Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis
Study Type
Interventional

2. Study Status

Record Verification Date
March 2022
Overall Recruitment Status
Not yet recruiting
Study Start Date
April 2022 (Anticipated)
Primary Completion Date
February 2023 (Anticipated)
Study Completion Date
February 2023 (Anticipated)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Assistance Publique - Hôpitaux de Paris

4. Oversight

Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No

5. Study Description

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Autosomal Recessive Congenital Ichthyosis, Epidermolytic Ichthyosis

7. Study Design

Primary Purpose
Other
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
Non-Randomized
Enrollment
20 (Anticipated)

8. Arms, Groups, and Interventions

Arm Title
Patients with ichtyosis
Arm Type
Other
Arm Title
Patients without ichtyosis
Arm Type
Other
Intervention Type
Other
Intervention Name(s)
Biological samples
Intervention Description
Blood samples Superficial skin Biopsy Collection of fallen squames Tapes - stripping
Intervention Type
Other
Intervention Name(s)
Skin biopsy
Intervention Description
healthy skin from surgery interventions
Primary Outcome Measure Information:
Title
Transcript and protein levels of all genes measured by NGS mRNA sequencing and by mass spectrometry in lesioned skin biopsies
Description
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 Outcome Measure Information:
Title
Transcript and protein levels of all genes assessed by NGS mRNA sequencing and by mass spectrometry (keratinocytes)
Description
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
Title
Phenotype of circulating PBMCS assessed by flow cytometry analysis using monoclonal Antibodies (mAbs)
Time Frame
Up to 6 months post inclusion

10. Eligibility

Sex
All
Minimum Age & Unit of Time
15 Years
Maximum Age & Unit of Time
80 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility Criteria
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)
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Emmanuelle BOURRAT, Dr
Phone
+331 42 49 90 90
Email
emmanuelle.bourrat@aphp.fr
First Name & Middle Initial & Last Name or Official Title & Degree
Matthieu RESCHE-RIGON, Pr
Phone
+33142499742
Email
matthieu.resche-rigon@u-paris.fr
Facility Information:
Facility Name
Saint Louis Hospital
City
Paris
ZIP/Postal Code
75010
Country
France
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Emmanuelle Bourrat

12. IPD Sharing Statement

Plan to Share IPD
Undecided

Learn more about this trial

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

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