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

Assistance Publique - Hôpitaux de Paris

Status

Completed

Conditions

Epidermolytic Ichthyosis

Autosomal Recessive Congenital Ichthyosis

Treatments

Other: Biological samples

Other: Skin biopsy

Study type

Interventional

Funder types

Other

Identifiers

NCT05312073

APHP210692

Details and patient eligibility

About

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.

Enrollment

18 patients

Sex

All

Ages

15 to 80 years old

Volunteers

Accepts 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).
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)