Treatment decision-making in sickle cell disease patients

Area of Science:

• Hematology
• Genetics
• Medical Ethics

Background:

• Sickle cell disease (SCD) is a debilitating blood disorder with limited approved curative options.
• Recent advancements in gene therapy and gene editing offer potential new curative treatments for SCD.
• Stem cell transplant is currently the only FDA-approved curative treatment for SCD.

Purpose of the Study:

• To assess patient attitudes towards emerging curative treatments for sickle cell disease.
• To understand patient preferences among stem cell transplant, gene therapy, and gene editing approaches.
• To identify key factors influencing patient decision-making for SCD curative therapies.

Main Methods:

• A survey was conducted with nine patients diagnosed with sickle cell disease.
• Participants reviewed educational materials on four curative treatment options: stem cell transplant, gene therapy, fetal hemoglobin gene editing, and point mutation gene editing.
• Patient preferences and reasons for choosing specific treatments were recorded.

Main Results:

• All four curative treatment options were selected by at least one participant.
• Gene correction gene editing emerged as the most frequently chosen treatment (N=4).
• Patients generally perceived treatments as beneficial but expressed mixed views on their safety. Perceived cure, decreased severity, and lack of a donor requirement were common reasons for selection.

Conclusions:

• Patients with SCD are open to various novel curative treatment modalities, with gene correction gene editing being the most favored.
• Decision-making for curative SCD treatments is influenced by multiple factors, including perceived efficacy and treatment accessibility.
• Further research is needed to fully understand patient perspectives on these advanced therapies.