Expanded-Access Use of Elamipretide Improves Quality of Life in Patients with Rare Mitochondrial Disorders Characterized by Ophthalmic Symptoms: A Case SeriesSharique Ansari1, Mary Kay Koenig21. Kane Hall Barry Neurology, 1305 Airport Freeway, Bedford, TX, USA2. University of Texas McGovern Medical School, Department of Pediatrics, Division of Child & Adolescent Neurology, Center for the Treatment of Pediatric Neurodegenerative Disease, Houston, TX, USACorresponding Author : Mary Kay Koenig, MD, Mary.k.koenig@uth.tmc.eduCo-author: Sharique Ansari, SAnsari@kanehallbarry.comAcknowledgements: The authors wish to thank the patients and their families for participating, as well as Jamie Dermatis, DPM, and Jim Shiffer, RPh, Write On Time Medical Communications, LLC, for their writing and editorial assistance during the development of this manuscript. Mary Kay Koenig wishes to thank her research nurse, Lindsey Miller, for providing patient support and assisting with administration and education responsibilities.Conflict of Interest Statement: The authors have no conflicts of interest to declare.Data Availability: The data that support the findings of this case report are not publicly available due to the data containing information that could compromise the privacy of the patient, but may be available from the corresponding author upon reasonable request.Ethics Approval Statement: FDA and local IRB review and approval were obtained prior to initiating therapy with elamipretide subcutaneously daily under this EAP.Patient Consent Statement: Written informed consent was obtained from the patients to be included in this study.Funding: Stealth BioTherapeutics provided support in supplying elamipretide for the patients and publishing this case series. The authors confirm independence from the sponsor. The content of the article has not been influenced by the sponsor.Keywords: Elamipretide, Mitochondrial Disease, Cardiolipin, NARP syndrome, CPEOKey Clinical Message: 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.
