SYSTEMATIC LITERATURE REVIEW OF CLINICAL EVIDENCE FOR ELAMIPRETIDE IN BARTH SYNDROME
Author(s)
Emillia Pierson, BSc, MSc1, Stephanie L. Swift, BSc, PhD2, Carol Forbes, PhD2, Jennifer Knight, PhD3, Annie Barnes, PhD3, Michael Withe, BSc1.
1Pharmanovia, Hatfield, United Kingdom, 2SMT Evidence, Leyburn, United Kingdom, 3AXIS - The Reimbursement Experts, Manchester, United Kingdom.
1Pharmanovia, Hatfield, United Kingdom, 2SMT Evidence, Leyburn, United Kingdom, 3AXIS - The Reimbursement Experts, Manchester, United Kingdom.
OBJECTIVES: Barth syndrome (BTHS) is an ultrarare inherited X-linked mitochondrial disorder resulting from genetic alterations in the TAZ gene. BTHS primarily affects male patients, and can cause cardiomyopathy, neutropenia, muscle weakness, growth deficiency, dysmorphism, cognitive impairment and swallowing issues. Elamipretide is a first-in-class, disease modifying therapy that targets the underlying mitochondrial pathology of BTHS. A systematic literature review (SLR) was carried out to identify all published clinical evidence for elamipretide in BTHS.
METHODS: Searches were performed in Embase® (Ovid), MEDLINE® (Ovid), CENTRAL/ CDSR (Cochrane) and CRD, from inception to 25th February 2026 and were supplemented by grey literature searches. The SLR followed Cochrane and CRD methodologies and PRISMA reporting guidelines. Interventional or observational studies were included if they reported defined efficacy, safety, HRQoL, patient-reported or carer outcomes for patients with BTHS treated with elamipretide. No language, geography or date restrictions were applied. Screening and data extraction were conducted by two independent reviewers. Risk of bias was assessed using NICE recommended checklists.
RESULTS: A total of 1,278 records were screened; only 3 studies (with 6 records; n=31 patients) were included. This included one interventional Phase II/III randomised trial with an open-label extension (TAZPOWER; NCT03098797), and two observational studies (one cohort, one cross-sectional), all conducted in the US. Improvements were reported for elamipretide vs placebo/no treatment for the six-minute walk-test, muscle strength by hand-held dynamometry, five times sit-to-stand test and SWAY balance assessment (2 studies each). Health-related quality of life was significantly improved for elamipretide vs placebo (1 study), and patient-reported fatigue was reduced. Safety profiles were similar for elamipretide vs placebo
CONCLUSIONS: This SLR provides critical new insights into the clinical outcomes of patients with BTHS following treatment with elamipretide. Elamipretide leads to significant and sustained improvements across multiple outcomes and represents an important new treatment paradigm for patients with BTHS.
METHODS: Searches were performed in Embase® (Ovid), MEDLINE® (Ovid), CENTRAL/ CDSR (Cochrane) and CRD, from inception to 25th February 2026 and were supplemented by grey literature searches. The SLR followed Cochrane and CRD methodologies and PRISMA reporting guidelines. Interventional or observational studies were included if they reported defined efficacy, safety, HRQoL, patient-reported or carer outcomes for patients with BTHS treated with elamipretide. No language, geography or date restrictions were applied. Screening and data extraction were conducted by two independent reviewers. Risk of bias was assessed using NICE recommended checklists.
RESULTS: A total of 1,278 records were screened; only 3 studies (with 6 records; n=31 patients) were included. This included one interventional Phase II/III randomised trial with an open-label extension (TAZPOWER; NCT03098797), and two observational studies (one cohort, one cross-sectional), all conducted in the US. Improvements were reported for elamipretide vs placebo/no treatment for the six-minute walk-test, muscle strength by hand-held dynamometry, five times sit-to-stand test and SWAY balance assessment (2 studies each). Health-related quality of life was significantly improved for elamipretide vs placebo (1 study), and patient-reported fatigue was reduced. Safety profiles were similar for elamipretide vs placebo
CONCLUSIONS: This SLR provides critical new insights into the clinical outcomes of patients with BTHS following treatment with elamipretide. Elamipretide leads to significant and sustained improvements across multiple outcomes and represents an important new treatment paradigm for patients with BTHS.
Conference/Value in Health Info
2026-11, ISPOR Europe 2026, Vienna, Austria
Value in Health, Volume 29, Issue 12S
Code
SA11
Topic
Study Approaches
Topic Subcategory
Literature Review & Synthesis
Disease
Cardiovascular Disorders (including MI, Stroke, Circulatory), Musculoskeletal Disorders (Arthritis, Bone Disorders, Osteoporosis, Other Musculoskeletal), Rare & Orphan Diseases