Heterogeneity of reported outcomes in epidermolysis bullosa clinical research: a scoping review as a first step towards outcome harmonization
Overview of patients’ cohorts in the French National rare disease registry
4 July 2023
Epidermolysis bullosa: time to come together for better outcomes
7 July 2023
Overview of patients’ cohorts in the French National rare disease registry
4 July 2023
Epidermolysis bullosa: time to come together for better outcomes
7 July 2023

Br J Dermatol. 2023 Jul 7;189(1):80-90. doi: 10.1093/bjd/ljad077. PMID: 37098154.

Heterogeneity of reported outcomes in epidermolysis bullosa clinical research: a scoping review as a first step towards outcome harmonization

Authors: Eva W H Korte 1Tobias Welponer 2Jan Kottner 3Sjoukje van der Werf 4Peter C van den Akker 5Barbara Horváth 1Dimitra Kiritsi 6Martin Laimer 2Anna M G Pasmooij 1 7Verena Wally 8Maria C Bolling 1

Affiliation:

  • Department of Dermatology.
  • 2Department of Dermatology and Allergology.
  • 3Charité-Universitätsmedizin Berlin, Institute of Clinical Nursing Science, Berlin, Germany.
  • 4Central Medical Library, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
  • 5Department of Genetics, UMCG Expertise Center for Blistering Diseases, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
  • 6Department of Dermatology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • 7Dutch Medicines Evaluation Board, Utrecht, the Netherlands.
  • 8Research Programme for Molecular Therapy of Genodermatoses, EB House Austria, University Hospital of the Paracelsus Medical University, Salzburg, Austria.

Abstract:

Background: Epidermolysis bullosa (EB) is a rare, genetically and clinically heterogeneous group of skin fragility disorders. No cure is currently available, but many novel and repurposed treatments are upcoming. For adequate evaluation and comparison of clinical studies in EB, well-defined and consistent consensus-endorsed outcomes and outcome measurement instruments are necessary.

Objectives: To identify previously reported outcomes in EB clinical research, group these outcomes by outcome domains and areas and summarize respective outcome measurement instruments.

Methods: A systematic literature search was performed in the databases MEDLINE, Embase, Scopus, Cochrane CENTRAL, CINAHL, PsycINFO and trial registries covering the period between January 1991 and September 2021. Studies were included if they evaluated a treatment in a minimum of three patients with EB. Two reviewers independently performed the study selection and data extraction. All identified outcomes and their respective instruments were mapped onto overarching outcome domains. The outcome domains were stratified according to subgroups of EB type, age group, intervention, decade and phase of clinical trial.

Results: The included studies (n = 207) covered a range of study designs and geographical settings. A total of 1280 outcomes were extracted verbatim and inductively mapped onto 80 outcome domains and 14 outcome areas. We found a steady increase in the number of published clinical trials and outcomes reported over the past 30 years. The included studies mainly focused on recessive dystrophic EB (43%). Wound healing was reported most frequently across all studies and referred to as a primary outcome in 31% of trials. Great heterogeneity of reported outcomes was observed within all stratified subgroups. Moreover, a diverse range of outcome measurement instruments (n = 200) was identified.

Conclusions: We show substantial heterogeneity in reported outcomes and outcome measurement instruments in EB clinical research over the past 30 years. This review is the first step towards harmonization of outcomes in EB, which is necessary to expedite the clinical translation of novel treatments for patients with EB.

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