Design and development of a disease-specific quality of life tool for patients with aplastic anaemia and/or paroxysmal nocturnal haemoglobinuria (QLQ-AA/PNH)—a report on phase III

Abstract

To date, instruments to measure quality of life (QoL) specifically for patients with acquired aplastic anaemia (AA) and paroxysmal nocturnal haemoglobinuria (PNH) are lacking altogether. As a consequence, this issue is either underevaluated or alternatively, instruments originally designed for cancer patients are being used. We therefore started to systematically develop a AA/PNH-specific QoL (QLQ-AA/PNH) instrument in these ultra-rare diseases according to European Organisation for Research and Treatment of Cancer (EORTC) guidelines. While phases I and II of the process have previously been published, we now report on the resulting instrument (phase III of this process). As part of the phase III of the evaluation process, we approached patients through physicians, patient support groups, and patient conferences. After participants completed the preliminary questionnaire and reported socio-demographic data, they were interviewed in person or via phone with a debriefing interview to find out whether the items were relevant, easy to understand, and acceptable to patients and whether there was anything missing in the questionnaire. We hypothesised what items could be combined into a scale and calculated Cronbach’s alpha to define its preliminary internal consistency. After definition of a priori criteria to keep or delete items, a group of six experts met in person, discussed the results, and decided on in- or exclusion. A total of 48 patients were enrolled, 21 of those suffered from AA (44%), 13 from PNH (27%), and 14 from AA/PNH syndrome (29%). The median time to complete the 69 items was 10 min (range 5–20), mean time 11 min. The compliance criterion (> 95% completion) was fulfilled by 57 items. Twenty-three items were mentioned as especially relevant by ≥ 2% of the patients. Cronbach’s alpha of the hypothesised scales ranged from 0.63 (social support) to 0.92 (fear of progression and illness intrusiveness). Finally, 47 items were kept; 16 were deleted, and 5 were changed, while 1 item expanded. This resulted in 54 items in total. As no issues were mentioned to lacking by a minimum of five patients, no items were added to the questionnaire. After completion, the AA/PNH-QoL tool (QLQ-AA/PNH) was translated according to EORTC guidelines into English, French, and Italian. For patients with PNH and AA until now, the standard assessment for QoL was to use the EORTC Quality of Life Questionnaire (QLQ-C30) or the Functional Assessment of Chronic Illness Therapy Fatigue Instrument (FACIT-Fatigue). We herewith present a new instrument aimed to be better tailored to the needs of PNH and AA patients. The anticipated fourth development phase will be performed for psychometric validation; however, we already explored the internal consistency of the hypothesised scales and found the results to be very good. Hence, the new QLQ-AA/PNH with 54 items can be used in trials and clinical studies from now on, according to EORTC strategy even if the scoring algorithm at this point is preliminary and the QLQ-AA/PNH might change sl...

Development of a patient-reported outcome questionnaire for aplastic anemia and paroxysmal nocturnal hemoglobinuria (PRO-AA/PNH)

“…For assessment of physical constraints rarely a standardized query was performed, emphasizing the need for AA/PNH speci c tools for this matter. A rst attempt to address this demand was recently made by a German group [5,6], who developed a disease-speci c HRQoL questionnaire together with patients. Our study aimed to expand this approach by designing a questionnaire not only for HRQoL but also for physical health in AA/PNH.…”

“…In AA a comparable registry does not exist, hence symptoms and HRQoL are mainly published as side observations within case reports, observational studies and interventional trials. This lack of standardized symptom assessment in AA/PNH has recently led a German expert group to develop the rst disease-speci c HRQoL questionnaire for AA and/or PNH [5,6]. This marks a key step for improving data collection in this rare disease group.…”

Travel Habits of Patients with End-Stage Malignant Diseases: A Pilot Study

“…Demographic development, declining travel costs as well as continuing improvements in supportive and antineoplastic therapies are reasonable predictors of increasing travel activities carried out by patients with former or current malignant diseases in the near future. However, there is only limited scienti c exploration of the intersection of malignant diseases and holiday taking, and there is a lack of evidence to guide health care providers and patients (16). We therefore conducted this exploratory study to create and validate a rst-in-class comprehensive travel habits questionnaire in order to evaluate travel habits in patients with end-stage malignant diseases.…”

Development of a patient-reported outcome questionnaire for aplastic anemia and paroxysmal nocturnal hemoglobinuria (PRO-AA/PNH)

“…Since self-assessment of HRQoL in AA/PNH was limited in the literature, we supplemented the data extraction with qualitative research results obtained by Groth et al [5,6]. In this recent project, AA/PNH patients and physicians rated questions of the EORTC QLQ-C30 questionnaire according to their importance in AA/ PNH.…”

“…In AA a comparable registry does not exist, hence symptoms and HRQoL are mainly published as side observations within case reports, observational studies and interventional trials. This lack of standardized symptom assessment in AA/PNH has recently led a German expert group to develop the first disease-specific HRQoL questionnaire for AA and/or PNH [5,6]. This marks a key step for improving data collection in this rare disease group.…”