Study of Inflammatory Mechanisms in Epidermolysis Bullosa Simplex- Dowling Meara

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
Centre Hospitalier Universitaire de Nice
ClinicalTrials.gov Identifier:
NCT01556308
First received: March 15, 2012
Last updated: July 28, 2014
Last verified: March 2012
  Purpose

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.


Condition Intervention
Epidermolysis Bullosa Simplex Dowling Meara
Procedure: Taking of liquid and top of blisters

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Basic Science
Official Title: Study of Inflammatory Mechanisms in Epidermolysis Bullosa Simplex- Dowling Meara

Resource links provided by NLM:


Further study details as provided by Centre Hospitalier Universitaire de Nice:

Primary Outcome Measures:
  • Markers of inflammation in epidermis in patients with severe DM-BS [ Time Frame: Baseline ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • clinical characterization of DM-EBS Genotype-phenoty [ Time Frame: Baseline ] [ Designated as safety issue: No ]

Enrollment: 6
Study Start Date: March 2012
Study Completion Date: October 2013
Primary Completion Date: March 2012 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: DM-EBS Procedure: Taking of liquid and top of blisters
the liquid and the top of blisters will be took.

  Eligibility

Ages Eligible for Study:   1 Year and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01556308

Locations
France
Hôpital Archet 2
Nice, France, 06200
Sponsors and Collaborators
Centre Hospitalier Universitaire de Nice
  More Information

No publications provided

Responsible Party: Centre Hospitalier Universitaire de Nice
ClinicalTrials.gov Identifier: NCT01556308     History of Changes
Other Study ID Numbers: 11-AOI-02
Study First Received: March 15, 2012
Last Updated: July 28, 2014
Health Authority: France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)
France: Committee for the Protection of Personnes

Keywords provided by Centre Hospitalier Universitaire de Nice:
Dowling Meara
Epidermolysis bullosa
inflammation

Additional relevant MeSH terms:
Epidermolysis Bullosa
Epidermolysis Bullosa Simplex
Skin Abnormalities
Congenital Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases
Skin Diseases, Vesiculobullous

ClinicalTrials.gov processed this record on September 16, 2014