Clinical trial NCT06136403: A 44-week Monocentric Open Study Assessing the Efficacy and Safety of Deucravacitinib in Adults With Inflammatory Genodermatoses
Official title: A 44-week Monocentric Open Study Assessing the Efficacy and Safety of Deucravacitinib in Adults With Inflammatory Genodermatoses
Study type: INTERVENTIONAL
Overall status: RECRUITING
Phase: PHASE2
Conditions: Epidermolysis Bullosa Simplex
Ichthyosis
Genodermatosis
Inflammatory Congenital Ichthyoses
Keywords: deucravacitinib
Lead sponsor: Centre Hospitalier Universitaire de Nice
Sponsor class: OTHER
First posted: 2023-11-18
Enrollment: 10
Sex: ALL
Minimum age (years): 18
Maximum age (years): 99
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Intervention model description: challenge dechalenge rechalenge design
Primary purpose: TREATMENT

Brief summary: 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.

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

Eligibility criteria: 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

Primary outcomes:
measure: efficacy of deucravacitinib
timeFrame: week 44
Secondary outcomes:
measure: Safety of deucravacitinib treatment
timeFrame: week 44
Other outcomes:
Locations:
city: Nice
country: France
facility: CHU de Nice
state: Chu de Nice
Study officials:
affiliation: Centre Hospitalier Universitaire de Nice
name: Christine Chiaverini
role: PRINCIPAL_INVESTIGATOR
References: