06 November 2023

Gene therapy for severe sickle cell disease seems to be an appealing treatment option for many patients, new research suggests.

The risks and benefits of gene therapy for this patient group have not been extensively measured, so Dr Juan Marcos Gonzalez of Duke University, North Carolina, USA, and his team set out to discover its value from the patients’ perspective.

They carried out a survey of 174 adult patients and 109 parents of children with sickle cell disease, at three clinical sites and one patient organisation.

The team carried out a ‘discrete-choice experiment’ survey, where respondents were asked to select between pairs of gene therapies, which varied by efficacy, life expectancy increases, mortality risk, and raised cancer risk, along with a ‘no gene therapy’ option.

“Adult and parent respondents were generally willing to choose gene therapies,” write the team in Blood Advances.

“But the adults required higher expected levels of efficacy (i.e., higher chance of eliminating symptoms) than parents to choose gene therapies that conferred mortality risks of 10% or more,” the authors report.

“Baseline symptoms are a major driver of gene therapy acceptability,” they add. “Adults and parents of patients with milder symptoms may prefer other treatment options; however, an expectation of symptom deterioration triggers strong reassessment of the acceptable benefit-risk balance of this novel technology.”

Novel gene therapies adapt the patient’s own haematopoietic stem cells, correcting the mutation which causes the abnormal sickle-shaped red blood cells. This is followed by high dose chemotherapy and reinfusion of the cells.

Dr Gonzalez said: “In recent decades, US survival rates for sickle cell disease patients have significantly risen, but the average life expectancy is about 60 years - substantially lower than that of the general population.

“Although current therapies are beneficial, many patients will not qualify for a bone marrow transplant and the other therapies will not eliminate sickle cell disease symptoms entirely.”


Gonzalez Sepulveda JM, Yang JC, Reed SD, Lee TH, Ng X, Rosenberg SS, Irony T, Ho M, Rothman J, Badawy SM, Rowley C, Little J, Shah N, Li K, Telen MJ. (2023) “Preferences for potential benefits and risks for gene therapy in the treatment of sickle cell disease.” Blood Advances, doi: 10.1182/bloodadvances.2023009680

Link: https://ashpublications.org/bloodadvances/article/doi/10.1182/bloodadvances.2023009680/498529/Preferences-for-potential-benefits-and-risks-for

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