Research project | Epidermolysis bullosa

Project lead

Project members

Current student team

Our students come from the fields of psychology, medicine and psychotherapy. They accompany the project for one year at a time, during which they familiarise themselves intensively with the topic, conduct research together with us and write their theses. The results obtained in this way are incorporated into further research and, if the work is of an appropriate quality, lead to joint publications.

Students:

• Julia Elsinger (Master’s programme in Medicine)
• Melanie Ensle (Master’s programme in Medicine)
• Leonie Moderinsky (Master’s programme in Psychology)
• Nina Nosek (Master’s programme in Psychology and Psychotherapy Science)
• Claudia Schmidt (Master’s programme in Hypnosystemic Counselling)
• Benedikt von Zumbusch (Master’s programme in Medicine)

The project is divided into several consecutive qualitative, quantitative and mixed-methods studies that have been implemented since 2019. The main aim of the project is to analyse stressful factors and helpful aspects of dealing with EB.

Analysing the research literature: In order to gain a comprehensive understanding of the psychosocial aspects of EB, we first conducted a systematic review of the scientific literature on this topic. We screened 1113 papers and finally selected 38 to analyse in detail.

Interview study 1: In order to gain basic insights into the burdens and helpful aspects of living with EB, we conducted 42 interviews. We interviewed people with EB, their relatives and EB experts from Austria, Germany and Italy and identified important helpful factors in dealing with EB. We found that, for example, relatives of people with EB mentioned more than twice as many aspects where they would like more support than people with EB.

Online survey: Not all people are the same: Different needs may be related to factors that influence quality of life, such as the form and severity of EB, the person’s role towards the person with EB, personal resources and other social factors such as age, gender, educational and financial background, place of residence (urban vs. rural) or the level of social support. To this end, an international quantitative study was carried out with over 200 EB sufferers and their relatives surveyed worldwide. The data is currently being analysed and the first publications are in preparation.

Interview study 2: Another study currently underway is focussing on adolescents and young adults with EB as well as their siblings and parents. As there are only a few studies on the situation of this target group and none on siblings, we have opted for a mixed-methods approach that combines a structured approach with personal interviews.

Test development, translation and validation: In order for scientific tests to be used in another language, it must first be ensured that they also ask exactly the same questions in translation. The Quality of Life in Epidermolysis Bullosa (QOLEB) questionnaire was translated into German and validated in order to enable more precise and targeted research in German-speaking countries. In order to strengthen the patient perspective, the psychometric properties of the iscorEB were analysed and published for patients’ self-assessment of their current state of health. A translation for the EB-BoD on family burden in EB is still in progress. We are also working on the development of our own questionnaire on resources for dealing with EB and a pain questionnaire for EB.

Socio-economic burden: EB places an enormous social and economic burden on patients and their families. The European BUR-EB project is collecting data to compare the socio-economic burden of EB in seven EU countries (Spain, France, Germany, Italy, Hungary, Austria and Bulgaria).

Psychological support in EB: One of our aims is to provide a comprehensive overview of psychological and psychotherapeutic interventions and important issues in working with people with EB and their families. As there is hardly any research literature on this topic, we are conducting interviews with international psychologists, psychotherapists and psychiatrists with expertise in EB.

Intervention study: The next step, building on all the previous qualitative and quantitative studies, is to conduct an intervention study with EB sufferers and their relatives to strengthen resources in German and English-speaking countries. The psychological interventions developed for this could be transferred to other rare diseases in the future.

• What is difficult and helpful about EB?
• Who finds what difficult and helpful? Why?
• How can quality of life in EB be analysed?
• How can the helpful be strengthened?

For years, medical and clinical research has been dedicated to finding a long-term cure for EB. However, this also raises the question of the present: What can be done right now to support people with EB and their families? This is precisely where our psychosocial research comes in – to shed light on psychological and social aspects in addition to the physical effects of the disease. This broadening of the hitherto primarily medically focussed perspective is intended to develop psychosocial interventions to improve and strengthen the quality of life of those affected and their families.

In short, the aims of this project are

• to gain insights into the psychosocial effects of EB on those affected and their relatives
• to build up a sound knowledge base on individual needs and helpful strategies for dealing with EB
• to create the basis for targeted interventions for the differentiated support and encouragement of people with EB and their relatives

• DEBRA Austria
• DEBRA Ireland
• Austrian Academy of Sciences (ÖAW)

Co-operation partners: EB Haus Austria, DEBRA international

Ongoing:

• Visions of quality of life with a rare disease. A transdisciplinary approach to identify, measure and improve quality of life with epidermolysis bullosa (2024-2027)
• BUR-EB: Changes in the Socio-economic Burden of Epidermolysis Bullosa in Europe (2023-2025)

Completed:

• Burdens and helpful aspects for achieving and maintaining quality of life with epidermolysis bullosa (2021-2023)
• Epidermolysis bullosa in Ireland: Burdens and helpful aspects for achieving and maintaining quality of life (2022)
• Epidermolysis bullosa: Patient relevant outcomes and helpful factors for the quality of life (2019-2021)

Salamon, G., Strobl, S., Field-Werners, U., Hübl, V., & Diem, A. (2024). Facing the complex challenges of people with epidermolysis bullosa in Austria: A mixed methods study on burdens and helpful practices. Orphanet Journal of Rare Diseases, 19(211), 1-14. doi: 10.1186/s13023-024-03163-4 (IF: 3.7)

Salamon, G., Strobl, S., Field-Werners, U., Welponer, T., Murrell, D. F., & Diem, A. (2024). Translation, cultural adaptation and validation of the German Quality of Life in Epidermolysis Bullosa (QOLEB) questionnaire. Journal of Health Psychology, -(-), 1-15. doi: 10.1177/13591053231221369 (IF: 3.2)

Salamon, G., Strobl, S., Field-Werners, U., Diem, A., Schwieger-Briel, A., & Pope, E. (2024). Psychometric Properties of the Instrument for Scoring Clinical Outcomes of Research for Epidermolysis Bullosa patient score (iscorEB-p): a patient-reported outcome measure. British Journal of Dermatology, -(-), 1-7. doi: 10.1093/bjd/ljae019 (IF: 10.3)

Salamon, G., & Hübl, V. (2020, January). Facilitating factors for the quality of life of people living with epidermolysis bullosa and their families, identified by health care professionals and experts. In ACTA DERMATO-VENEREOLOGICA (Vol. 100, pp. 49-49).

Salamon, G., Ruberl, A., & Maar, L. (2020, January). Psychosocial aspects of epidermolysis bullosa and quality of life. A systematic review. In ACTA DERMATO-VENEREOLOGICA (Vol. 100, pp. 73-73).

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