Gene Therapy in Hemophilia: A Transformational Patient Experience

Abstract

Hemophilia is a bleeding disorder caused by a single absent/defective gene and characterized by a lack of functional clotting factors. People with hemophilia may experience joint damage, pain, and psychological impairments, all of which could contribute to reduced health-related quality of life (HRQoL). The current standard of care is clotting factor replacement, which is associated with regular infusions; therefore, alternative treatments such as gene therapy (GT) are in development. GT involves the delivery of a functional copy of the clotting factor 8/9 gene by a single infusion into the patient's cells, enabling them to produce their own clotting factor VIII/IX. The impact of treatment on patients' HRQoL can be assessed using hemophilia-specific patient-reported outcome (PRO) measures. Since these measures were designed before the advent of GT, there is a need for updated individualized PRO measures. Patient groups and regulatory authorities emphasize the need for increased patient engagement when considering clinical trial design. Here, we provide patients' perspective on undergoing GT and discuss how to capture the patient voice when measuring the therapy's transformative impact.

Keywords: clinician-patient relationship; communication; patient engagement; patient perspectives/narratives; patient satisfaction; quality of life.

Figure 1.

Outcomes/endpoints that matter to hemophilia patients. *Domains were rated by each patient based on an index value (1-100) and added for a cumulative score.

Figure 2.

Summary of descriptor words provided by patients to illustrate their general feelings associated with hemophilia and experiences before (A) and after (B) GT. Red: Negative, blue: Neutral, green: Positive. GT, gene therapy.