Instrument for Scoring Clinical Outcome of Research for Epidermolysis Bullosa: A Consensus‐Generated Clinical Research Tool

Abstract

Epidermolysis bullosa (EB) is a genetic condition characterized by skin fragility and blistering. There is no instrument available for clinical outcome research measurements. Our aim was to develop a comprehensive instrument that is easy to use in the context of interventional studies. Item collection was accomplished using a two-step Delphi Internet survey process for practitioners and qualitative content analysis of patient and family interviews. Items were reduced based on frequency and importance using a 4-point Likert scale and were subject to consensus (>80% agreement) using the nominal group technique. Pilot data testing was performed in 21 consecutive patients attending an EB clinic. The final score, Instrument for Scoring Clinical Outcome of Research for Epidermolysis Bullosa (iscorEB), is a combined score that contains clinician items grouped in five domains (skin, mucosa, organ involvement, laboratory abnormalities, and complications and procedures; maximum score 114) and patient-derived items (pain, itch, functional limitations, sleep, mood, and effect on daily and leisurely activities; maximum score 120). Pilot testing revealed that combined (see below) and subscores were able to differentiate between EB subtypes and degrees of clinical severity (EB simplex 21.7 ± 16.5, junctional EB 28.0 ± 20.7, dystrophic EB 57.3 ± 24.6, p = 0.007; mild 17.3 ± 9.6, moderate 41.0 ± 19.4, and severe 64.5 ± 22.6, p < 0.001). There was high correlation between clinician and patient subscores (correlation coefficient = 0.79, p < 0.001). iscorEB seems to be a sensitive tool in differentiating between EB types and across the clinical spectrum of severity. Further validation studies are needed.

Reliability and validity of the instrument for scoring clinical outcomes of research for epidermolysis bullosa (iscorEB)

“…In our study population, iscorEB‐c demonstrated a good ability to discriminate between patients with mild, moderate and severe EB. These results are similar to those found during pilot testing of iscorEB as previously reported . In addition, iscorEB‐c is able to distinguish between RDEB and other disease subtypes as a whole.…”

“…This derives from our prior work on the development of the score, which emphasized that items being part of the clinician portion should be specific, descriptive and easy to measure by a nonspecialist (e.g. not necessary to have an ophthalmologist score the eye changes) . In this study, only the skin and mucosal portions of iscorEB‐c were repeated to test intraobserver reliability, as these are the only two parts of the assessments that rely on clinical judgement.…”

“…The absence of a widely accepted, comprehensive, EB‐specific outcome instrument is a significant unmet need in EB clinical research. The instrument for scoring clinical outcomes of research for EB (iscorEB) was developed with this gap in mind, using a rigorous methodology and international collaboration involving EB clinical experts and patients with EB that derived and refined the content of iscorEB with an emphasis on items that may change over time, particularly as a result of intervention . Therefore, iscorEB is unique in that it evaluates the cutaneous and mucosal impact of EB in addition to its impact on other organs, and includes clinician‐ and patient‐reported outcomes in a single instrument (File S1; see Supporting Information).…”

“…The instrument for scoring clinical outcomes of research for EB (iscorEB) was developed with this gap in mind, using a rigorous methodology and international collaboration involving EB clinical experts and patients with EB that derived and refined the content of iscorEB with an emphasis on items that may change over time, particularly as a result of intervention. 18 Therefore, iscorEB is unique in that it evaluates the cutaneous and mucosal impact of EB in addition to its impact on other organs, and includes clinician-and patientreported outcomes in a single instrument (File S1; see Supporting Information). Our central hypothesis for this study is that iscorEB is a reliable and valid outcome instrument that measures clinically relevant and patient-important outcomes specific to EB.…”

Epidermólisis bullosa en el Perú: estudio clínico y epidemiológico de pacientes atendidos en un hospital pediátrico de referencia nacional, 1993-2015

“…El estado nutricional fue evaluado en base a parámetros de peso y talla, de acuerdo a las tablas de la Organización Mundial de la Salud, versión 2008 (10) . Para la severidad de la anemia se consideró a lo indicado en el instrumento iscorEB (en español: Instrumento para calificar los resultados para la investigación de la EB): anemia leve de 10 a 11,9 g/dL, anemia moderada de 8,0 a 9,9 g/dL y anemia severa de 6,1 a 7,9 g/dL (11) . …”