Expanded-access use of elamipretide in a newborn with Barth syndrome: a case report.

ABSTRACT:

Background

Barth syndrome (BTHS) is a rare genetic disease, with no approved curative therapies, characterized by abnormally developed cardiolipin, resulting in mitochondrial dysfunction. Cardiomyopathy, a common clinical manifestation of BTHS, often appears in infancy. Elamipretide, an investigational drug that binds to cardiolipin on the inner mitochondrial membrane, leads to improved membrane stability, enhanced adenosine triphosphate production, and reduced reactive oxygen species. This patient case aims to further support elamipretide's role in treating BTHS infants.

Case summary

We present an infant diagnosed in utero with BTHS who demonstrated a moderately dilated left ventricle (LV) with an LV ejection fraction (LVEF) of 20% at birth. He was transferred to a t

SUBMITTER: Ortmann L 

PROVIDER: S-EPMC11799937 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature