The potential impact of gene therapy on health-related quality of life (HRQoL) domains in haemophilia-Reference-Cited by-同舟云学术

The potential impact of gene therapy on health-related quality of life (HRQoL) domains in haemophilia

Published:2021-01-01 Issue:1 Volume:8 Page:56-68
ISSN:2055-3390
Container-title:The Journal of Haemophilia Practice
language:en
Short-container-title:

Author:

Bullinger Monika^ORCID,Gardner Diandra Latibeaudiere¹^ORCID,Lewis Hannah B¹^ORCID,Miesbach Wolfgang²^ORCID,Nolte Sandra³^ORCID,O’Hara Jamie⁴^ORCID,O’Mahony Brian⁵^ORCID,Pollard Debra⁶^ORCID,Skinner Mark⁷^ORCID,Quinn Jennifer⁸^ORCID

Affiliation:

1. ICON Clinical Research Limited , London , UK

2. Medical Clinic 2, Institute of Transfusion Medicine , University Hospital Frankfurt , Germany

3. ICON Clinical Research Limited , Munich , Germany ; Charité–Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin , and Berlin Institute of Health, Medical Department, Division of Psychosomatic Medicine , Berlin , Germany

4. HCD Economics , University of Chester , UK

5. Irish Haemophilia Society , Dublin , Ireland ; Trinity College , Dublin , Ireland

6. Royal Free Hospital , London , UK ; Trustee of Haemnet , UK ; MASAG, European Haemophilia Consortium

7. Institute for Policy Advancement Ltd , Washington , DC , US ; McMaster University , Hamilton , ON , Canada

8. BioMarin UK Ltd , London , UK .

Abstract

Abstract Introduction 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.

Publisher

Haemnet

Link

https://www.sciendo.com/pdf/10.17225/jhp00176

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