Perceptions and Recommendations Regarding Haemophilia B Gene Therapy: A Multistakeholder View From Patients,...

Gene therapy for Haemophilia B has received FDA approval, offering patients a transformative therapeutic option. However, effective communication about the benefits, risks, long-term efficacy and follow-up of gene therapy remains essential for informed decision-making. This study aimed to explore the diverse expectations, concerns and perspectives of patients with Haemophilia B, their caregivers and healthcare professionals (HCPs) regarding gene therapy and to identify strategies for improving communication.

A prospective qualitative study was conducted using semi-structured interviews with male patients aged ≥12 years with moderate or severe Haemophilia B (factor level ≤ 2%), their caregivers and HCPs (physicians, nurses, social workers, advanced practice providers and pharmacists). Interviews were audio-recorded, transcribed and analysed thematically.

Thirty participants were interviewed, including 15 patients (mean age, 21.1 years), caregivers and 15 HCPs across the United States. Patients and caregivers emphasised five themes: (1) current challenges; (2) hope and optimism; (3) concerns and skepticism; (4) the complex emotional challenges of decision-making and (5) preferences for transparent, patient-friendly communication. HCPs identified four complementary themes: (1) variable patient knowledge; (2) the need for transparency in discussing 'curative' language; (3) factors influencing treatment decisions (trust, prior experiences and financial concerns) and (4) strategies to improve communication (clear language, visuals and testimonials).

Stakeholders view gene therapy as both promising and uncertain. Targeted educational interventions, transparent communication and patient-centred decision discussions are essential to fill knowledge gaps and support informed consent in this transformative era of treatment for Haemophilia B.