Abstract
ObjectivesTransfusion-dependent β-thalassemia (TDT) is a genetic disease that affects production of red blood cells. Conventional treatment involves regular red blood cell transfusions and iron chelation, which has a substantial impact on quality of life. While potentially curative, allogeneic hematopoietic stem cell transplantation (allo-HSCT) is associated with risk of complications, including graft-versus-host disease (GvHD). Gene addition therapy, a novel treatment approach, involves autologous transplantation of the patient’s own genetically modified hematopoietic stem cells. The purpose of this study was to estimate utilities associated with treatment approaches for TDT.MethodsGeneral population respondents in England valued eight health state vignettes (developed with clinician, patient, and parent input) in time trade-off interviews.ResultsA total of 207 participants completed interviews (49.8% female; mean age = 43.2 years). Mean (SD) utilities for the pre-transplant health states were 0.73 (0.25) with oral chelation and 0.63 (0.32) with subcutaneous chelation. Mean utilities for the transplant year were 0.62 (0.35) for gene addition therapy, 0.47 (0.39) for allo-HSCT, and 0.39 (0.39) for allo-HSCT with acute GvHD. Post-transplant utilities were 0.93 (0.15) for transfusion independent, 0.75 (0.25) for 60% transfusion reduction, and 0.51 (0.38) for chronic GvHD. Acute and chronic GvHD were associated with significant disutility (acute = − 0.09, p < 0.0001; chronic = − 0.42, p < 0.0001).ConclusionsUtilities followed expected patterns, with logical differences between treatment options for TDT and substantially greater utility for transfusion independence than for ongoing treatment involving transfusion and chelation. These utilities may be useful in cost-utility models estimating the value of treatments for TDT.
Highlights
Transfusion-dependent β-thalassemia (TDT) is a severe genetic disease caused by mutations in the HBB gene that lead to impaired or absent β-globin production, which affects the production of healthy red blood cells [1]
Conventional treatment for TDT involves lifelong supportive care with regular blood transfusions that lead to unavoidable iron build up that can result in significant organ damage [7, 8]
The only currently available therapy with the potential to correct the genetic deficiency is allogeneic hematopoietic stem cell transplant, which carries the risk of serious complications, including graft-versus-host disease (GvHD), graft failure, and death [9,10,11,12]
Summary
Transfusion-dependent β-thalassemia (TDT) is a severe genetic disease caused by mutations in the HBB gene that lead to impaired or absent β-globin production, which affects the production of healthy red blood cells [1]. The incidence and prevalence of β-thalassemia vary across geographic regions. It is a rare disease in most of Europe and the US, but it is more common in some areas of South Asia, the Middle East, North Africa, and Southern Europe [2,3,4,5,6]. Conventional treatment for TDT involves lifelong supportive care with regular blood transfusions that lead to unavoidable iron build up that can result in significant organ damage [7, 8]. The only currently available therapy with the potential to correct the genetic deficiency is allogeneic hematopoietic stem cell transplant (allo-HSCT), which carries the risk of serious complications, including graft-versus-host disease (GvHD), graft failure, and death [9,10,11,12]
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