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

Centre Hospitalier Universitaire de Nice

Status and phase: Enrolling; Phase 2

Conditions: Genodermatosis; Ichthyosis; Inflammatory Congenital Ichthyoses; Epidermolysis Bullosa Simplex

Treatments: Drug: deucravacitinib

Study type: Interventional

Funder types: Other

Identifiers

NCT06136403

22-PP-20

2022-502879-32-00 (Other Identifier)

Details and patient eligibility

About

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.

Full 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

Enrollment: 10 estimated patients

Sex: All

Ages: 18 to 99 years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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10 participants in 1 patient group

deucravacitinib treatment

Experimental group

Description:

challenge-dechallenge -rechallenge design

Treatment:

Drug: deucravacitinib