Loading...
The potential impact of gene therapy on health-related quality of life (HRQoL) domains in haemophilia
Bullinger, Monika Gardner, Diandra L. Lewis, Hannah B. Miesbach, Wolfgang Nolte, Sandra O’Hara, Jamie O’Mahony, Brian Pollard, Debra Skinner, Mark W. Quinn, Jennifer
Bullinger, Monika
Gardner, Diandra L.
Lewis, Hannah B.
Miesbach, Wolfgang
Nolte, Sandra
O’Hara, Jamie
O’Mahony, Brian
Pollard, Debra
Skinner, Mark W.
Quinn, Jennifer
Advisors
Editors
Other Contributors
EPub Date
Publication Date
2021-05-30
Submitted Date
Collections
Files
Loading...
Article - VoR
Adobe PDF, 1.69 MB
Other Titles
Abstract
Haemophilia is an inherited bleeding disorder characterised by spontaneous bleeding, often leading to impaired health-related quality of life (HRQoL). Commonly used treatments include episodic and prophylactic treatment regimens. Gene therapies could soon become available, potentially creating a paradigm shift in patient management. Aim This paper proposes hypotheses about the potential impact of gene therapy on HRQoL domains in haemophilia, and how these impacts might differ compared with existing treatments. Methods An expert working group with 10 individuals experienced in haemophilia and HRQoL research was established to discuss potential impacts of gene therapy on HRQoL in general and for specific domains in haemophilia. As part of a one-day workshop, domains of three widely used patient-reported outcome (PRO) instruments were explored: the Haemo-QoL-A, the Patient Reported Outcomes, Burden and Experiences (PROBE), and the Haemophilia Activities List (HAL). Results The group expected a greater improvement in HRQoL from gene therapy compared with existing treatments for the following domains: physical/role functioning, worry, and consequences of bleeding (Haemo-QoL-A); haemophilia-related health and EQ-5D-5L (part of the PROBE); leg and arm function, and leisure activities (HAL). In contrast, the experts suggested that no change or potential deterioration might be observed for the emotional impact (HAL) and treatment concerns (Haemo-QoL-A) domains. Conclusions Current PRO instruments in haemophilia have limitations when applied in the context of gene therapy, and no single instrument fully captures the relevant HRQoL domains. However, the PROBE and Haemo-QoL-A were considered as the most suitable existing instruments. As haemophilia treatments evolve, further research should examine the potential effectiveness of existing PRO instruments as compared to the development of novel PRO measures.
Citation
Bullinger, M., Gardner, D. L., Lewis, H. B., Miesbach, W., Nolte, S., O’Hara, J., O’Mahony, B., Pollard, D., Skinner, M., & Quinn, J. (2021). The potential impact of gene therapy on health-related quality of life (HRQoL) domains in haemophilia. The Journal of Haemophilia Practice, 8(1), 56-68. https://doi.org/10.17225/jhp00176
Publisher
Sciendo
Journal
The Journal of Haemophilia Practice
Research Unit
DOI
10.17225/jhp00176
PubMed ID
PubMed Central ID
Type
Article
Language
Description
© 2021 Monika Bullinger et al., published by Sciendo
Series/Report no.
ISSN
EISSN
2055-3390