%0 Journal Article
%A Fuente, Josu de la
%A Frangoul, Haydar
%A Lang, Peter
%A Wall, Donna
%A Meisel, Roland
%A Corbacioglu, Selim
%A Li, Amanda M
%A Shah, Ami J
%A Carpenter, Ben
%A Kwiatkowski, Janet L
%A Mapara, Markus Y
%A Liem, Robert I
%A Rupprecht, Joachim
%A Kuo, Kevin H M
%A Merkeley, Hayley
%A Algeri, Mattia
%A Smith, Wally
%A Kohli, Puja
%A Li, Nanxin
%A Rubin, Jaime
%A Zhang, Siyu
%A Hobbs, William
%A Locatelli, Franco
%T Improvements in health-related quality of life in patients with transfusion-dependent β-thalassemia after exagamglogene autotemcel.
%J Blood advances
%V 9
%N 24
%@ 2473-9529
%C Washington, DC
%I American Society of Hematology
%M DKFZ-2025-02941
%P 6502 - 6510
%D 2025
%X 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-5D-Y VAS score and PedsQL total score, with sustained improvements in both physical and psychosocial health subcomponents. These results indicate exa-cel leads to broad, durable, and clinically meaningful improvements in HRQoL in adults and adolescents with TDT. These trials were registered at www.ClinicalTrials.gov as #NCT03655678 and #NCT04208529.
%K Humans
%K Quality of Life
%K beta-Thalassemia: therapy
%K beta-Thalassemia: psychology
%K Adolescent
%K Adult
%K Male
%K Female
%K Blood Transfusion
%K Young Adult
%K Middle Aged
%K Patient Reported Outcome Measures
%K Child
%K Treatment Outcome
%K Hematopoietic Stem Cells
%K Clustered Regularly Interspaced Short Palindromic Repeats
%K exagamglogene autotemcel (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:40862696
%R 10.1182/bloodadvances.2025016702
%U https://inrepo02.dkfz.de/record/307248