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

NCT ID: NCT05312073

Last Updated: 2024-07-16

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 18 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2022-12-07
• Study Completion Date: 2024-04-06

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

Study Design

• Allocation Method: NON_RANDOMIZED
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: OTHER
• Blinding Strategy: NONE

Study Groups

Patients with ichtyosis

Group Type: OTHER

Biological samples

Intervention Type: OTHER

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

Patients without ichtyosis

Group Type: OTHER

Skin biopsy

Intervention Type: OTHER

healthy skin from surgery interventions

Interventions

Biological samples

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

Intervention Type: OTHER

Skin biopsy

healthy skin from surgery interventions

Intervention Type: OTHER

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).
• 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)

• Minimum Eligible Age: 15 Years
• Maximum Eligible Age: 80 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

Saint Louis Hospital

Paris, , France

Countries

France

Other Identifiers

APHP210692

Identifier Type: -

Identifier Source: org_study_id