Q81.2 Q81.8
Conditions
Interventions
Group 1: In this prospective study, patients with generalised dystrophic and junctional epidermolysis bullosa are examined for this study at a single time-point. Collected data include:
-Wound burden
Sponsors
Klinik für Dermatologie und VenerologieEpidermolysis bullosa-Zentrum Freiburg
Eligibility
Sex/Gender
All
Age
0 Years to 20 Years
Inclusion criteria
Inclusion criteria: Arm 1: Epidermolysis bullosa Confirmed diagnosis of epidermolysis bullosa, subtypes 1. recessive dystrophic epidermolysis bullosa generalised severe, recessive dystrophic epidermolysis bullosa generalised intermediate, junctional epidermolysis bullosa generalised intermediate Arm 2: Healthy controls - Healthy children and adolescents
Exclusion criteria
Exclusion criteria: Arm 1: Epidermolysis bullosa - Acute viral or bacterial infections - Squamous cell carcinoma - Severe concomitant disease - No simultaneous participation in a therapeutic trial Arm 2: Healthy controls - Inflammatory skin diseases (e.g. psoriasis, atopic dermatitis) - Acute viral or bacterial infections - Squamous cell carcinoma - Severe concomitant disease
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| In this prospective study, the following measures are included as primary outcome measures: -Wound burden (= affected percentage of body surface, measured with a Lund-Browder-Chart) -Disease activity (measured using EB-DASI) -Characteristics/Diversity of the skin and intestinal microbiome (RNA-sequencing of swabs of intact skin (forearm), wound (forearme), oral mucosa and stool sample) -Serum inflammation parameters (C-reactive protein (CRP), leukocyte count, immunoglobulins (IgA, IgG, IgM, IgE) and cytokines (IL-1beta, IL-2, IL-6, IL-10, TGF-beta TNF-beta and Interferon-gamma) -Measurement of weight in kg -Measurement of height in cm. The primary end point is the complete characterisation of the cutaneous and intestinal microbiome from the available swabs and samples. | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary outcomes of these study are: -The occurrence of underweight (i.e. weight below 3rd percentile of WHO reference charts) -The occurrence of short stature (i.e. height below 3rd percentile of WHO reference charts) -Elevated inflammatory serum parameters in comparison to reference values -The existence and, if applicable, the extent of correlation between growth percentile and inflammatory parameters and microbiome profile. | — |
Countries
Germany
Contacts
Public ContactAntonia Reimer
Epidermolysis bullosa-Zentrum Freiburg, Klinik für Dermatologie und Venerologie, Universitätsklinikum Freiburg
Outcome results
None listed