Health-related quality of life in patients with mitochondrial disease and their carers
With increasing use of genetic testing and genomic sequencing, as well as hope for gene therapies, health utility values will be necessary for economic evaluations of new interventions for mitochondrial disease. This paper shows the substantial impact on HRQoL of mitochondrial disease measured through utilities. The utility values from this paper can inform future economic evaluations for interventions for patients with mitochondrial disease. Further, the paper demonstrated that mitochondrial disease not only reduces the HRQoL of patients but also impacts the HRQoL of carers.
Authors
- Sarah West (ORCID: https://orcid.org/0000-0001-8516-4140)
- Jayamala Parmar
- Sameen Haque (ORCID: https://orcid.org/0000-0002-6204-6640)
- Carolyn M. Sue (ORCID: https://orcid.org/0000-0003-1255-3617)
- DEBORAH J. SCHOFIELD (ORCID: https://orcid.org/0000-0002-1658-494X)
- Joshua Kraindler (ORCID: https://orcid.org/0000-0003-2103-6726)
- Owen Tan (ORCID: https://orcid.org/0000-0002-0303-7138)
- Karen Crawley
- Katherine K. Lim (ORCID: https://orcid.org/0000-0001-9960-6878)
- Rupendra N. Shrestha (ORCID: https://orcid.org/0000-0001-5455-0735)
- Adam Percival
Institutions
- UNSW Sydney (AU)
- South Eastern Sydney Local Health District (AU)
- Macquarie University (AU)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2025-09-27
- DOI
- https://doi.org/10.1136/jmg-2025-110896
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Medical Research Council
- National Health and Medical Research Council