Study of in Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis (NCT05312073) | Clinical Trial Compass
CompletedNot Applicable
Study of in Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis
France18 participantsStarted 2022-12-07
Plain-language 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.
Who can participate
Age range15 Years – 80 Years
SexALL
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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)
What they're measuring
1
Transcript and protein levels of all genes measured by NGS mRNA sequencing and by mass spectrometry in lesioned skin biopsies