Study of Inflammatory Mechanisms in Epidermolysis Bullosa Simplex- Dowling Meara

NCT ID: NCT01556308

Last Updated: 2014-07-29

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

6 participants

Study Classification

INTERVENTIONAL

Study Start Date

2012-03-31

Study Completion Date

2013-10-31

Brief Summary

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Introduction: Epidermolysis Bullosa Simplex-Dowling-Meara (DM-EBS) is a rare genodermatosis characterized by spontaneous or post traumatic large cutaneous blisters. No curative treatment is actually available. Some data suggest a role of inflammation in the occurrence of blisters. The aim of this study is to study the epidermis inflammatory mechanisms in DM-EBS.

Material and methods: A first retrospective immunohistochemical study will be led on remainder skin biopsies of DM-EBS patients took for the diagnosis. A second clinical multicentric prospective study will be led on 8 patients older than 1 year with severe DM-EBS. After informed written consent, they will answer to a standardized questionnaire. In case of flare of the disease, the liquid and the top of the blisters will be took. Samples will be analyzed in the Pr Nicolas 851 INSERM unit. After centrifugation of the liquid blisters, the repartition of inflammatory cells will be evaluated by Fluorescence Activated Cell Sorting on the pellet. Markers of inflammation will be evaluated on the surnageant with Luminex® technical with a multiplex targeting cytokines and chemokines. An immuno-histochemic analysis in association with a quantitative PCR will be made on the top of the blisters. If unknown, genotypic study will be made.

Perspectives: A better comprehension of physiopathological mechanisms in DM-EBS could offer new therapeutic ways.

Detailed Description

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Conditions

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Epidermolysis Bullosa Simplex Dowling Meara

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

BASIC_SCIENCE

Blinding Strategy

NONE

Study Groups

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DM-EBS

Group Type EXPERIMENTAL

Taking of liquid and top of blisters

Intervention Type PROCEDURE

the liquid and the top of blisters will be took.

Interventions

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Taking of liquid and top of blisters

the liquid and the top of blisters will be took.

Intervention Type PROCEDURE

Eligibility Criteria

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Inclusion Criteria

* male or female
* older than 1 year-old
* severe Dowling Meara epidermolysis bullosa (more than 2 blisters per day)
* systematic written informed consent
* child consent
* affiliated to french social security

Exclusion Criteria

* younger than one year-old
* no consent
* non affiliated to french social security
* participation to another clinical trial within 3 months ago
* intercurrent disease justifying the withdrawal of the study
* own patient decision to stop the study, withdrawal of informed consent
Minimum Eligible Age

1 Year

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Centre Hospitalier Universitaire de Nice

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Hôpital Archet 2

Nice, , France

Site Status

Countries

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France

Other Identifiers

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11-AOI-02

Identifier Type: -

Identifier Source: org_study_id

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