A 44-week Monocentric Open Study Assessing the Efficacy and Safety of Deucravacitinib in Adults With Inflammatory Genodermatoses (GENEPID)

The goal of this clinical trial is to learn about deucravacitinib treatment in adults with inflammatory epidermal genodermatoses . The main question it aims to answer are: describe efficacity and safety of this treatment.

Participants will take treatments and have to use bullets during the study period.

Study Overview

• Status: Recruiting
• Conditions: Ichthyosis; Epidermolysis Bullosa Simplex; Genodermatosis; Inflammatory Congenital Ichthyoses
• Intervention / Treatment: Drug: deucravacitinib

Detailed Description

The patient will have 8 visits After Confirmation of inclusion criteria and no exclusion criteria, the study will be explain to the patient after signing the inform consent and be included in the study Treatment Period (Period 1); challenge period This period will be the first treatment period that will occur from 16 weeks. During this period the patient will see the doctor at the hospital, he will perform the study procedures The second period : dechallenge (period 2): All patients stop their treatment for 12 weeks.

The second treatment period - rechallenge (period 3) the patient will take the treatment for a second 16 weeks period At week 44 - End of study

At each visit:

The investigator at each visit compliance to the treatment and adverse events, Measure vital signs and perform clinical examination.

The patient will assess the different questionnaires, for the study and have blood sample

• Study Type: Interventional
• Enrollment (Estimated): 10
• Phase: Phase 2

Contacts and Locations

• Study Contact: Name: christine chiaverini; Phone Number: 04.92.03.47.02; Email: chiaverini.c@chu-nice.fr

Study Locations

• France
  • Paris, France, 75010
    • Recruiting
    • APHP St Louis
    • Contact: Emmanuelle BOURRAT, Doctor; Phone Number: 01 42 49 45 41; Email: marioncauseret@yahoo.fr
    • Principal Investigator: Emmanuelle BOURRAT, Doctor
  • Chu de Nice
    • Nice, Chu de Nice, France, 06003
      • Recruiting
      • CHU de Nice
      • Principal Investigator: Christine CHIAVERINI
      • Contact: Phone Number: 0492034702

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• Subject has congenital skin fragility with skin and/or mucosal blisters, a clinical phenotype of EBS-sev and a laboratory confirmed diagnosis of EBS by KRT5 and/or 14 mutation (autosomal only) OR a clinical phenotype of inflammatory ichthyosis (IC) including keratinopathic ichthyosis due to KRT1/10 mutation, ECI with identified genetic mutations (TGM5, NIPAL4, ABCA12, etc…).

• Subject has at least a mean daily number of 4 new blisters (EBS-sev) OR an ISS > 50/128.

  • Subject agrees not to use any topical therapies other than the investigator approved.

Exclusion Criteria:

• Subjects with another form of ICI ie Netherton syndrome, Kid syndrome etc.
• Infectious/Immune-related Exclusions
• Medical History and Concurrent Diseases

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: deucravacitinib treatment; challenge-dechallenge -rechallenge design	Drug: deucravacitinib; treatment by deucravacitinib in two phases of challenge

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
efficacy of deucravacitinib	number of new blister conting every day	week 44

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Safety of deucravacitinib treatment	record of adverse events	week 44

Collaborators and Investigators

• Sponsor: Centre Hospitalier Universitaire de Nice
• Investigators: Principal Investigator: Christine CHIAVERINI, Centre Hospitalier Universitaire de Nice

Study record dates

Study Major Dates

• Study Start (Actual): March 18, 2024
• Primary Completion (Estimated): September 30, 2025
• Study Completion (Estimated): October 12, 2026

Study Registration Dates

• First Submitted: November 13, 2023
• First Submitted That Met QC Criteria: November 13, 2023
• First Posted (Actual): November 18, 2023

Study Record Updates

• Last Update Posted (Actual): August 5, 2025
• Last Update Submitted That Met QC Criteria: July 31, 2025
• Last Verified: July 1, 2025

More Information

Terms related to this study

• Keywords: deucravacitinib
• Additional Relevant MeSH Terms: Genetic Diseases, Inborn; Infant, Newborn, Diseases; Skin Diseases; Congenital Abnormalities; Skin Abnormalities; Keratosis; Skin Diseases, Vesiculobullous; Epidermolysis Bullosa; Ichthyosis; Skin Diseases, Genetic; Ichthyosis, Lamellar; Epidermolysis Bullosa Simplex; Ichthyosiform Erythroderma, Congenital; Molecular Mechanisms of Pharmacological Action; Enzyme Inhibitors; Dermatologic Agents; Protein Kinase Inhibitors; Deucravacitinib
• Other Study ID Numbers: 22-PP-20; 2022-502879-32-00 (Other Identifier: CTIS)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No