Study summary · research use only
Elamipretide in the Management of Barth Syndrome: Current Evidence and a Case Report
Plain-language summary
Paraphrased from the published abstract below — not a verdict on whether anything works.
This case report and literature review describes a case of prenatally identified Barth syndrome with severe left ventricle non-compaction cardiomyopathy in an infant, in whom elamipretide (ELAM) was started shortly after birth for clinical heart failure. The authors report this was associated with sustained clinical improvement, leading to an inactive status on the heart transplant list with eventual anticipated delisting. The abstract states Barth syndrome arises from pathogenic variants in TAFAZZIN (TAZ) affecting cardiolipin synthesis, that no FDA-approved therapies currently exist, and that elamipretide has been shown in pre-clinical and clinical studies in older individuals with Barth syndrome to stabilize cardiolipin and improve mitochondrial bioenergetics; the article also reviews Barth syndrome pathophysiology and ELAM's mechanism of action.
Abstract
Barth syndrome is an exceedingly rare and potentially fatal X-linked mitochondrial disease arising from pathogenic variants in TAFAZZIN (TAZ), leading to defects in mature cardiolipin synthesis and its integration into the mitochondrial inner mitochondrial membrane. Clinical features that may be severe include cardiomyopathy, cyclic neutropenia, skeletal myopathy, and growth delay. Currently, no FDA-approved therapies exist. Elamipretide (ELAM) has been shown to stabilize cardiolipin and improve mitochondrial bioenergetics in pre-clinical and clinical studies in older individuals with Barth syndrome. Here we describe a case of prenatally identified Barth syndrome-related severe left ventricle (LV) non-compaction cardiomyopathy, where ELAM was initiated shortly after birth for clinical heart failure and was associated with significant and sustained clinical improvement leading to an inactive status on the heart transplant list with eventual anticipated delisting. We provide a review of the current literature including the pathophysiology of Barth syndrome, the mechanism of action of ELAM, and its clinical applications.
pepmg summarizes the peer-reviewed literature and links to every source — it sells nothing, ships nothing, and gives no medical, dosing, or human-use guidance. Don't just trust this summary: follow the citation to its source and read it yourself. Research use only.