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Completed

NCT Number: NCT05312073

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.

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Key information

Conditions

Autosomal Recessive Congenital Ichthyosis Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Epidermolytic Ichthyosis Genetic Diseases, Inborn Hyperkeratosis, Epidermolytic Ichthyosiform Erythroderma, Congenital Ichthyosis Infant, Newborn, Diseases Keratosis Skin Abnormalities Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases

Age range

15 year–80 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Saint Louis Hospital

Paris, 75010, France

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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)

Treatment and study plan

Biological Samples

Other

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

Skin biopsy

Other

healthy skin from surgery interventions

Primary outcomes

  1. Transcript and protein levels of all genes measured by NGS mRNA sequencing and by mass spectrometry in lesioned skin biopsies

    Time frame: 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 outcomes

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

    Time frame: 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.

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

    Time frame: Up to 6 months post inclusion

Sponsors and collaborators

Lead sponsor

Assistance Publique - Hôpitaux de Paris

Other

Registry information

Acronym: OMICHTYOSE

Important dates

Study start
2022
Primary completion
2024
Study completion
2024
First posted
Apr 5, 2022
Registry last updated
Jul 16, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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