The Food and Drug Administration has granted Orphan Drug designation to elamipretide for the treatment of Friedreich ataxia.

Friedreich ataxia is a rare genetic disease caused by mutations in the FXN gene resulting in a relative deficiency of frataxin, and leading to mitochondrial iron accumulation and oxidative stress. The disease is typically characterized by progressive decline in visual function, dysarthria, cardiomyopathy, characteristic foot deformities, and scoliosis.

Elamipretide is a peptide compound designed to readily penetrate cell membranes targeting the inner mitochondrial membrane where it binds reversibly to cardiolipin. In preclinical studies, elamipretide has been shown to improve frataxin levels in Friedreich ataxia patient-derived cells, and improve motor and cardiac function in an animal model of Friedreich ataxia.

The Company has started evaluating the safety, visual function, and cardiac function of 2 doses of elamipretide in patients with Friedreich ataxia in a phase 2a investigator-initiated study ( Identifier: NCT05168774).

“We are pleased that the FDA has recognized the high unmet need for innovative treatments for Friedreich’s ataxia,” said CEO Reenie McCarthy. “We are delighted to be working closely with Dr. Lynch and the Children’s Hospital of Pennsylvania to evaluate elamipretide as a potential treatment for the progressive visual dysfunction and cardiomyopathy that affects visual quality of life and lifespan for individuals affected with this disease.”

The FDA’s Orphan Drug designation is granted to medicines intended to treat or prevent rare diseases or disorders that affect fewer than 200,000 individuals.


  1. Stealth BioTherapeutics receives Orphan Drug designation from FDA for elamipretide for the treatment of Friedreich’s ataxia. News release. Stealth BioTherapeutics Inc. Accessed March 28, 2022.
  2. Programs & Pipeline: Pipeline. Stealth BioTherapeutics Inc. Accessed March 28, 2022.
  3. Rare Disease Database: Friedreich’s Ataxia. National Organization for Rare Disorders, Inc. Accessed March 28, 2022.