Disease burden and treatment patterns of paroxysmal nocturnal hemoglobinuria in Japan: a real-world survey.

This study aimed to determine the clinical profile and disease burden of patients with paroxysmal nocturnal hemoglobinuria (PNH) in Japan using real-world data from the Adelphi Real World PNH Disease Specific Programme (DSP)™, a cross-sectional survey conducted between January and December 2022. Data included demographics, treatment, and clinical values (hemoglobin [Hb] and lactate dehydrogenase [LDH]). Patient-reported outcome measures included the EQ-5D-5L and the FACIT-Fatigue. Seventeen physicians provided information on 45 patients, among whom 86.7% were receiving treatment with complement 5 inhibitors (C5i). Median (IQR) age was 65.0 (54.5, 73.0) years; 55.6% were male. Among C5i-treated patients (n = 39), 51.3% received ravulizumab and 48.7% eculizumab, for a median (IQR) duration of 1.6 (1.0, 2.7) years. Median (IQR) Hb level was 7.2 (7.0, 8.1) g/dL at diagnosis and 10.0 (8.8, 10.6) g/dL at survey; 91.4% had LDH levels exceeding 1.5 times the upper limit of normal at diagnosis, 11.4% at survey. Twelve patients returned a self-completed questionnaire. Patient-reported symptoms included tiredness (83.3%), shortness of breath (75.0%), and anemia (58.3%). Mean (SD) EQ-5D-5L and FACIT-Fatigue scores were 0.73 (0.16) and 32.3 (7.1). Even C5i-treated patients continued to experience substantial disease burden, highlighting the need for more effective treatments to improve quality of life.