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

Eva W H Korte, Tobias Welponer, Jan Kottner, Sjoukje van der Werf, Peter C van den Akker, Barbara Horváth, Dimitra Kiritsi, Martin Laimer, Anna M G Pasmooij, Verena Wally, Maria C Bolling*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

10 Citations (Scopus)
116 Downloads (Pure)

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.

Original languageEnglish
Pages (from-to)80-90
Number of pages11
JournalThe British journal of dermatology
Volume189
Issue number1
DOIs
Publication statusPublished - 7-Jul-2023

Keywords

  • Humans
  • Epidermolysis Bullosa/therapy
  • Epidermolysis Bullosa Dystrophica
  • Wound Healing
  • Registries
  • Patient Reported Outcome Measures

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