Development of a patient‐reported outcomes symptom measure for patients with nontransfusion‐dependent thalassemia (NTDT‐PRO©)

β‐Thalassemia, a hereditary blood disorder caused by reduced or absent synthesis of the β‐globin chain of hemoglobin, is characterized by ineffective erythropoiesis, and can manifest as nontransfusion‐dependent thalassemia (NTDT) or transfusion‐dependent thalassemia (TDT). Many patients with NTDT develop a wide range of serious complications that affect survival and quality of life (QoL). Patient‐reported outcomes (PRO), including health‐related QoL (HRQoL), are important tools for determining patient health impairment and selecting appropriate treatment. However, there are currently no disease‐specific PRO tools available to assess symptoms related to chronic anemia experienced by patients with NTDT. This study aimed to develop a new, US Food and Drug Administration (FDA)‐compliant PRO of chronic anemia symptoms, the NTDT‐PRO© tool, for use in patients with NTDT. Participants had a median age of 36 years (range, 18‐47) and 60% were female. The initial development of the NTDT‐PRO tool involved concept‐elicitation interviews with 25 patients from 3 centers (in Lebanon, Greece, and Canada); subsequent interview discussions and clinical input resulted in the generation of 9 items for inclusion in the draft NTDT‐PRO. Following a round of cognitive interviews involving 21 patients from 2 centers (in Lebanon and Greece), 4 items (Pain, Headaches, Ability to Concentrate, and Paleness) were removed from the draft NTDT‐PRO. The final NTDT‐PRO comprises 6 items that measure Tiredness, Weakness, and Shortness of Breath, with or without Physical Activity. The NTDT‐PRO is a new disease‐specific HRQoL tool for patients with NTDT, developed using a thorough methodology based on FDA 2009 PRO development guidelines.