Use of Elamipretide in Patients Assigned Treatment in the Compassionate Use Program: Case Series in Pediatric Patients with Rare Orphan Diseases

Authors

Mary Kay Koenig
Sam Nick Russo
Kim L McBride
Hans Tomas Bjornsson
Brynja Bjork Gunnarsdottir
Amy Goldstein
Scott A Falk

Publication Date

1-1-2023

Journal

JIMD Reports

Abstract

Several mitochondrial diseases are caused by pathogenic variants that impair membrane phospholipid remodeling, with no FDA-approved therapies. Elamipretide targets the inner mitochondrial membrane where it binds to cardiolipin, resulting in improved membrane stability, cellular respiration, and ATP production. In clinical trials, elamipretide produced clinical and functional improvements in adults and adolescents with mitochondrial disorders, such as primary mitochondrial myopathy and Barth syndrome; however, experience in younger patients is limited and to our knowledge, these are the first case reports on the safety and efficacy of elamipretide treatment in children under 12 years of age. We describe the use of elamipretide in patients with mitochondrial disorders to provide dosing parameters in patients aged <12 >years.

Keywords

Barth syndrome, Cardiolipin, Elamipretide, MEGDEL, mitochondrial disease, Sengers syndrome

Comments

PMID: 36636586