Epidermolysis Bullosa Simplex Dowling Meara Clinical Trial
Official title:
Study of Inflammatory Mechanisms in Epidermolysis Bullosa Simplex- Dowling Meara
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.
| Status | Completed |
| Enrollment | 6 |
| Est. completion date | October 2013 |
| Est. primary completion date | March 2012 |
| Accepts healthy volunteers | No |
| Gender | Both |
| Age group | 1 Year and older |
| Eligibility |
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 |
Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Basic Science
| Country | Name | City | State |
|---|---|---|---|
| France | Hôpital Archet 2 | Nice |
| Lead Sponsor | Collaborator |
|---|---|
| Centre Hospitalier Universitaire de Nice |
France,
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | Markers of inflammation in epidermis in patients with severe DM-BS | Baseline | No | |
| Secondary | clinical characterization of DM-EBS Genotype-phenoty | Baseline | No |