Signs, symptoms, and health-related quality of life in MELAS: measuring what’s important from the patient and clinician perspectives
Patients with MELAS can self-report on S/S/I. Results from both patient and clinician interviews demonstrate that symptoms related to fatigue and cognitive impairment are frequent, bothersome, and important to improve. Assessments of fatigue and cognitive function should therefore be considered key outcome measures in clinical trials enrolling patients with MELAS.
Authors
- Pamela Ventola (ORCID: https://orcid.org/0000-0002-8062-0626)
- Fernando Scaglia (ORCID: https://orcid.org/0000-0003-3502-8460)
- Marisa Brimmer
- Amy Goldstein (ORCID: https://orcid.org/0000-0001-6593-5905)
- Sumit Parikh (ORCID: https://orcid.org/0000-0003-3712-8959)
- Amel Karaa (ORCID: https://orcid.org/0000-0001-5781-9824)
- Alan L. Shields (ORCID: https://orcid.org/0000-0003-3362-3135)
- Chad Gwaltney (ORCID: https://orcid.org/0000-0001-8130-2024)
- Chris J. Edgar (ORCID: https://orcid.org/0000-0002-5638-9188)
- Austin Larson (ORCID: https://orcid.org/0000-0002-2079-6929)
- Sari Berger
- Paolo Medrano (ORCID: https://orcid.org/0000-0002-0494-088X)
- Karra Harrington (ORCID: https://orcid.org/0000-0001-9230-2978)
- Benjamin Banderas (ORCID: https://orcid.org/0000-0003-2845-2634)
- Chad Glasser
- Matthew T. Webster (ORCID: https://orcid.org/0000-0003-1141-2863)
- Jennifer Chickering
- Lily Settel
- Phebe Wilson
Institutions
- Children's Hospital of Philadelphia (US)
- Baylor College of Medicine (US)
- Massachusetts General Hospital (US)
- Adelphi Group (United Kingdom) (GB)
- Prince of Wales Hospital (CN)
- Texas Children's Hospital (US)
- Io Therapeutics (United States) (US)
- Adelphi Laboratory Center (US)
- University of Colorado Anschutz Medical Campus (US)
- MRC Mitochondrial Biology Unit (GB)
- University of Pennsylvania (US)
- University of Hong Kong (HK)
- University of Colorado Denver (US)
Publication Details
- Journal
- Journal of Patient-Reported Outcomes
- Published
- 2025-10-27
- DOI
- https://doi.org/10.1186/s41687-025-00962-6
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- PTC Therapeutics
- Astellas Pharma
- National Institutes of Health