Assessing Preferences for Rare Disease Treatment: Qualitative Development of the Paroxysmal Nocturnal Hemoglobinuria Patient Preference Questionnaire (PNH-PPQ^©)

Figures & data

Figure 1 Approach used to develop the PNH-PPQ.

Table 1 Patient Concept Elicitation Sample (N=8)

Patient Characteristic
Mean age (range)	44 (29–66)
	n (%)
Sex
Male	3 (37.5)
Female	5 (62.5)
Race/Ethnicity
Caucasian	7 (87.5)
South Asian	1 (12.5)
Education
Less than 6th form college (UK)	1 (12.5)
Graduate of 6th form college (UK)	2 (25)
University or advanced degree	5 (62.5)
Marital Status
Currently married	5 (62.5)
Single (never married)	3 (37.5)
Employment Status
Employed full time	4 (50)
Employed part time	2 (25)
Retired	1 (12.5)
Unemployed	1 (12.5)
Place of Treatment (Eculizumab) Administration (N=6)
Home infusion	3 (50)
Clinic/hospital	1 (16.67)
Mix of home and clinic infusions	2 (33.33)
	(average, range)
Years since PNH diagnosis	(9, 1–20)
Number of years received eculizumab (N=6)	(4, 1–8)
Number of ravulizumab infusions received (N=6)	(6, 4–10)

Abbreviation: PNH, paroxysmal nocturnal hemoglobinuria.

Table 2 Aspects of Treatment Most Important to PNH Patients (N=8)

Important Aspects of Treatment for Patients (Number of Patients Endorsing Each Concept)^a	Most Important Aspect of Treatment (Number of Patients Endorsing Each Concept)^b
Quality of life (2)	Quality of life (2)
Symptom control (2)	Symptom control (2)
Treatment efficacy (2)	Treatment efficacy (1)
Treatment frequency (2)	Treatment frequency (1)
Access to medication (1)	Access (1)
Convenience (1)	Cost (1)
Cost of medication (1)
Discomfort during treatment (1)
Time required to get treatment, including travel (1)
Side effects of treatment (1)
Treatment setting (1)

Notes: ^aPatients could provide more than one concept. ^bPatients could provide only one concept.

Abbreviation: PNH, paroxysmal nocturnal hemoglobinuria.

Table 3 Key Themes from the PNH Concept Elicitation Interviews

Theme	Patients from Concept Elicitation Sample Who Endorsed Theme, n (%)	Definition
Disease symptoms	8 (100)	PNH symptoms experienced; impact of symptoms on the patient’s life; impact of treatment on symptoms
Quality of life impact of treatment/disease	7 (88)	Overall QOL or specific QOL domains (physical, emotional, social, etc.) that are impacted by treatment
Treatment burden	7 (88)	Logistical issues related to treatment (e.g., burden of scheduling treatment, waiting for treatment); physical impacts (e.g., needle pricks); or emotional impacts (e.g., reminders of illness, feeling guilt for missing social activities, anxiety from missed work)
Treatment frequency	7 (88)	Frequency of infusions
Treatment efficacy	5 (63)	Controlling the disease (e.g., managing lactate dehydrogenase levels and hemoglobin count; preventing thrombosis)
Treatment side effects	5 (63)	Physical side effects of treatment

Abbreviations: PNH, paroxysmal nocturnal hemoglobinuria; QOL, quality of life.

Table 4 Final Questionnaire Content as It Relates to Themes from Concept Elicitation Interviews

Domain	Item
Disease symptoms	Which medication did you prefer based on … controlling fatigue (2A)^a
	Which medication did you prefer based on … controlling symptoms other than fatigue (2B)
	(Drug name) was effective in treating symptoms of PNH (6,10)
Quality of life impact of treatment or disease	Which medication did you prefer based on … your overall quality of life (2I)
	While I was receiving treatments with (drug name) I was able to enjoy life (7,11)
Treatment burden	Which medication did you prefer based on … convenience of receiving treatment (2E)
	Which medication did you prefer based on … being able to plan activities (2F)
	Which medication did you prefer based on … anxiety related to the infusion (2H)
Treatment frequency	Which medication did you prefer based on … frequency of infusions (2C)
	The frequency of infusions with (drug name) disrupted my life (4,8)
Treatment efficacy	Which medication did you prefer based on … effectiveness of the medication until the next infusion (2G)
Treatment side effects	Which medication did you prefer based on … side effects of treatment (2D)
	After receiving infusions with (drug name), I had fatigue (5,9)

Note: ^aQuestion numbers from the PNH-PPQ are shown in parentheses.

Abbreviation: PNH, paroxysmal nocturnal hemoglobinuria.