German Clinical Trials Register

Acronym/abbreviation of the study

MINION-EB

URL of the study

No Entry

Brief summary in lay language

Epidermolysis bullosa is an inherited disease leading to fragility and blistering of skin and mucous membrane. The disease further affects the individuals’ development: individuals with epidermolysis bullosa show impaired growth from infancy onwards. Exact data regarding growth in Epidermolysis bullosa are missing and reasons for the developmental differences remain obscure. Next to an impaired nutrition, there are hints towards a negative influence of inflammation (e.g. resulting from chronic an large wounds) on growth of children with epidermolysis bullosa. The human body lives in quiet cooperation (“symbiosis”) with billions of bacteria, whose function and importance have only been partly understood as yet. The entirety of these bacteria is called “microbiome”. Skin in individuals with epidermolysis bullosa is known to be frequently colonised with certain strains of bacteria, mainly staphylococci. Our hypothesis is that in the affected skin in epidermolysis bullosa, the natural skin barrier is reduced, leading to changes in the skin microbiome with a reduced diversity (i.e., few groups of bacteria, e.g. staphylococci, prevail) in comparison with healthy skin (where there are usually many different kinds of bacteria). These changes could enhance inflammation processes that in turn increase the barrier defect and wounds, resembling a vicious circle. With this study, we aim to elucidate the characteristics of the microbiome of skin, mucous membranes and intestines by taking skin swabs and stool samples. We will compare the results to the findings of an age- and sex-matched control group of healthy children. Within blood samples of individuals with epidermolysis bullosa, we will analyse inflammation parameters to see whether there truly is a link between the bacterial profile on skin and intestines, systemic inflammation and the individuals’ growth. In the long term, the knowledge gained in this study could lead to new therapeutic approaches.

Brief summary in scientific language

Generalised subtypes of the genodermatosis epidermolysis bullosa are characterised by lifelong skin fragility and blistering of skin and mucous membranes, leading to local and systemic inflammation. Wounds in epidermolysis bullosa show frequent bacterial colonisation and are prone to superinfection. Next to the cutaneous symptoms, extracutaneous affection, e.g. growth impairment, failure to thrive and anaemia are common. The factors modifying the natural history of epidermolysis bullosa are poorly understood. Our hypothesis is that the extent of wounds and of systemic inflammation and the diversity of the cutaneous and intestinal microbiome is one factor influencing the growth of individuals with epidermolysis bullosa. In this study, we measure wound burden and disease activity, analyse serum inflammation parameters and sequence the microbiome of wounds, intact skin, mucous membranes and intestine. These data are then correlated with epidermolysis bullosa-specific growth charts of weight, height and body mass index established in a previous project. The insights gained in this project could lead to new therapeutic approaches and hence result in an increase in quality of life for individuals with epidermolysis bullosa.