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

NCT05312073 | Completed

• 1 other identifier: APHP210692
• Study Type: interventional
• Target: 18
• Locations: 1 country
• Sites: 1

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.

Conditions

Autosomal Recessive Congenital Ichthyosis; Epidermolytic Ichthyosis

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (2)

• Transcript and protein levels of all genes assessed by NGS mRNA sequencing and by mass spectrometry (keratinocytes)

  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

Study Arms (2)

Patients with ichtyosis

OTHER

Other: Biological samples

Patients without ichtyosis

OTHER

Other: Skin biopsy

Interventions

Biological samples OTHER

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

Patients with ichtyosis

Skin biopsy OTHER

healthy skin from surgery interventions

Patients without ichtyosis

Eligibility Criteria

• Age: 15 Years - 80 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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)

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Saint Louis Hospital

Paris, 75010, France

Location

MeSH Terms

Conditions

Hyperkeratosis, Epidermolytic

Condition Hierarchy (Ancestors)

Ichthyosiform Erythroderma, Congenital; Ichthyosis; Skin Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases, Genetic; Genetic Diseases, Inborn; Infant, Newborn, Diseases; Keratosis; Skin Diseases; Skin and Connective Tissue Diseases

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: OTHER
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 10, 2021
• First Posted: April 5, 2022
• Study Start: December 7, 2022
• Primary Completion: April 6, 2024
• Study Completion: April 6, 2024
• Last Updated: July 16, 2024

Record last verified: 2024-07

Locations

FR (1)