1. Gene Therapy in Hemophilia: A Transformational Patient Experience.
- Author
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Rasul, Enayet, Hallock, Ryan, Hellmann, Magnus, Konduros, Jay, Pembroke, Luke, LeCleir, Gregory, Malacan, Jean, and von Mackensen, Sylvia
- Subjects
HEMOPHILIA treatment ,RESEARCH ,LEISURE ,SPORTS participation ,FOCUS groups ,HEALTH services accessibility ,PATIENT participation ,SELF-perception ,PATIENT satisfaction ,HEALTH outcome assessment ,ACTIVITIES of daily living ,PATIENTS' attitudes ,EXPERIENCE ,PHYSICAL activity ,GENE therapy ,QUALITY of life ,RESEARCH funding ,QUESTIONNAIRES ,COMMUNICATION ,PATIENT-professional relations ,EVALUATION - 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. [ABSTRACT FROM AUTHOR]
- Published
- 2023
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