Development and content validity testing of a patient-reported outcomes questionnaire for the assessment of hereditary angioedema in observational studies.

Nicola Bonner,Hilary Longhurst,Sandra Christiansen,Teresa Caballero,Linda Abetz-Webb,Lydie Renault,Bruce Zuraw,Marcus Maurer

doi:10.1186/s12955-015-0292-7

Abstract

BackgroundHereditary Angioedema (HAE), a rare genetic disease, manifests as intermittent, painful attacks of angioedema. Attacks vary in frequency and severity and include skin, abdominal and life-threatening laryngeal swellings. This study aimed to develop a patient reported outcome (PRO) tool for the assessment of HAE attacks, including their management and impact on patients’ lives, for use in clinical studies, or by physicians in general practice.MethodsThe results of open-ended face to face concept elicitation interviews with HAE patients in Argentina (n = 10) and the US (n = 33) were used to develop the first draft questionnaire of the HAE patient reported outcomes questionnaire (HAE PRO). Subsequently, in-depth cognitive debriefing interviews were performed with HAE patients in the UK (n = 10), Brazil (n = 10), Germany (n = 11) and France (n = 12). Following input from eight multinational clinical experts further cognitive interviews were conducted in the US (n = 12) and Germany (n = 12). Patients who experienced abdominal, cutaneous or laryngeal attacks of varying severity levels were included in all rounds of interviews. Across the rounds of interviews patients discussed their HAE attack symptoms, impacts and treatments. Cognitive debriefing interviews explored patient understanding and relevance of questionnaire items. All interviews were conducted face to face following a pre-defined semi-structured interview guide in the patient’s native language.ResultsPatients reported a variety of HAE symptoms, attack triggers, warning signs, attack impacts and treatment options which were used to develop the HAE PRO. The HAE PRO was revised and refined following input from patients and clinical experts. The final 18-item HAE PRO provides an assessment of the HAE attack experience including symptoms, impacts, treatment requirements, healthcare resource use and loss of productivity caused by HAE attacks.ConclusionsPatient and expert input has contributed to the development of a content valid questionnaire that assesses concepts important to HAE patients globally. HAE patients across cultures consider the HAE PRO a relevant and appropriate assessment of HAE attacks and treatment.

Highlights

Hereditary Angioedema (HAE), a rare genetic disease, manifests as intermittent, painful attacks of angioedema
The development of the HAE patient reported outcome (PRO) was conducted over four stages involving interviews with HAE patients and consultation with expert HAE clinicians (Fig. 1)
Initial cognitive debriefing interviews To test the face and content validity of the draft HAE patient reported outcomes questionnaire (HAE PRO), in-depth, open-ended and cognitive debriefing interviews were performed with HAE patients in the UK (n = 10), Brazil (n = 10), Germany (n = 11) and France (n = 12)

Summary

Introduction

Hereditary Angioedema (HAE), a rare genetic disease, manifests as intermittent, painful attacks of angioedema. Attacks vary in frequency and severity and include skin, abdominal and life-threatening laryngeal swellings. Hereditary Angioedema (HAE) Hereditary angioedema (HAE) due to C1-Inhibitor defects is a rare genetic disease that manifests as unpredictable recurring attacks of painful angioedema (swelling) [1,2,3]. The disease occurs in two main phenotypic variants: Type I (occurring in approximately 80-85 % of patients) is characterized by a decrease in the formation of C1-INH to about 10-30 % of normal [1]. HAE attacks can occur in various locations of the body but are categorized into three main types: attacks affecting the skin (cutaneous attacks), attacks affecting the gastrointestinal system (abdominal attacks) and attacks affecting the larynx (laryngeal swellings) [4]. HAE attacks can cause severe discomfort, pain and disability to patients resulting in emotional distress and impacting the patient’s ability to perform their daily activities [7, 8]

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