Expanded-Access Use of Elamipretide Improves Quality of Life in Patients With Rare Mitochondrial Disorders Characterized by Ophthalmic Symptoms: A Case Series

Clin Case Rep. 2024 Nov 29;12(12):e9591. doi: 10.1002/ccr3.9591. eCollection 2024 Dec.

Abstract

This case series presents the use of elamipretide in two patients with different progressive mitochondrial disorders (chronic progressive external ophthalmoplegia [CPEO] plus and neuropathy, ataxia, and retinitis pigmentosa [NARP] syndrome) characterized by ophthalmic traits. Elamipretide was well tolerated and both patients demonstrated improvement in symptoms while on therapy.

Keywords: CPEO; Cardiolipin; Elamipretide; NARP syndrome; mitochondrial disease.