Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases.

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.

• Authors: Mary Kay Koenig, Sam Nick Russo, Kim L McBride, Hans Tomas Bjornsson, Brynja Bjork Gunnarsdottir, Amy Goldstein, Scott A Falk
• Journal: JIMD reports (JIMD Rep) Vol. 64 Issue 1 Pg. 65-70 (Jan 2023) ISSN: 2192-8304 [Print] United States
• PMID: 36636586 (Publication Type: Journal Article)
• Copyright: © 2022 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.