Improvements in health-related quality of life in patients with transfusion-dependent β-thalassemia after exagamglogene autotemcel

作者：Josu de la Fuente, Haydar Frangoul, Peter Lang, Donna A. Wall, Roland Meisel, Selim Corbacioglu, Amanda M. Li, Ami J. Shah, Ben Carpenter, Janet L. Kwiatkowski, Markus Y. Mapara, Robert I. Liem, Joachim Rupprecht, Kevin H.M. Kuo, Hayley Merkeley, Mattia Algeri, Wally R. Smith, Puja Kohli, Nanxin Li, Jaime Rubin, Siyu Zhang, William Hobbs, Franco Locatelli · 发表于：Blood Advances · 年份：2025 · DOI：10.1182/bloodadvances.2025016702 · 被引用次数：3 · 研究领域：Hemoglobinopathies and Related Disorders、Palliative Care and End-of-Life Issues

ABSTRACT: Transfusion-dependent β-thalassemia (TDT) can have negative impacts on a patient's health-related quality of life (HRQoL). Exagamglogene autotemcel (exa-cel) is a one-time, ex vivo CRISPR-Cas9 gene-edited cell therapy for TDT shown in a phase 3 clinical trial to result in transfusion independence in most participants. Here, we describe changes in patient-reported outcome (PRO) measures after exa-cel infusion in 54 participants (adults, n = 35; adolescents, n = 19), who had ≥16 months of follow-up. In adults, PRO measures included the EuroQol Quality of Life Scale-5 dimensions-5 levels of severity (EQ-5D-5L) and the Functional Assessment of Cancer Therapy Bone Marrow Transplant (FACT-BMT). In adolescents, the EuroQol Quality of Life Scale-5 dimensions-youth (EQ-5D-Y) and Pediatric Quality of Life Inventory (PedsQL) instruments were used. At baseline, mean EQ-5D-5L visual analog scale (VAS) and US and UK health utility index scores in adults were in line with baseline scores reported for adults with TDT. After exa-cel infusion, all 3 scores improved, exceeding established minimal clinically important differences (MCIDs) at month 48. Mean FACT-General (FACT-G) score and bone marrow transplant subscale score improved through month 48, also exceeding MCIDs, with improvements in all 4 FACT-G subscales (physical, social/family, emotional, and functional well-being). Consistent with HRQoL improvements in adults, adolescents had increases from baseline at month 24 in mean EQ...