Gene Therapy in Hemophilia
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Gene Therapy in Hemophilia : A Transformational Patient Experience. / Rasul, Enayet; Hallock, Ryan; Hellmann, Magnus; Konduros, Jay; Pembroke, Luke; LeCleir, Gregory; Malacan, Jean; von Mackensen, Sylvia.
In: J PATIENT EXPERIENCE, Vol. 10, 2023, p. 23743735231193573.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Gene Therapy in Hemophilia
T2 - A Transformational Patient Experience
AU - Rasul, Enayet
AU - Hallock, Ryan
AU - Hellmann, Magnus
AU - Konduros, Jay
AU - Pembroke, Luke
AU - LeCleir, Gregory
AU - Malacan, Jean
AU - von Mackensen, Sylvia
N1 - © The Author(s) 2023.
PY - 2023
Y1 - 2023
N2 - 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.
AB - 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.
U2 - 10.1177/23743735231193573
DO - 10.1177/23743735231193573
M3 - SCORING: Journal article
C2 - 37663068
VL - 10
SP - 23743735231193573
JO - J PATIENT EXPERIENCE
JF - J PATIENT EXPERIENCE
SN - 2374-3743
ER -