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Completed

NCT Number: NCT01556308

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.

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Key information

Conditions

Epidermolysis Bullosa Simplex Dowling Meara Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Epidermolysis Bullosa Genetic Diseases, Inborn Inflammation Pathologic Processes Pathological Conditions, Signs and Symptoms Skin Abnormalities Skin Diseases Skin Diseases, Genetic Skin Diseases, Vesiculobullous Skin and Connective Tissue Diseases

Age range

1 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Hôpital Archet 2

Nice, 06200, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Taking of liquid and top of blisters

Procedure

the liquid and the top of blisters will be took.

Primary outcomes

  1. Markers of inflammation in epidermis in patients with severe DM-BS

    Time frame: Baseline

Secondary outcomes

  1. clinical characterization of DM-EBS Genotype-phenoty

    Time frame: Baseline

Sponsors and collaborators

Lead sponsor

Centre Hospitalier Universitaire de Nice

Other

Registry information

Important dates

Study start
2012
Primary completion
2012
Study completion
2013
First posted
Mar 16, 2012
Registry last updated
Jul 29, 2014

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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