A global perspective on research advances and future challenges in Friedreich ataxia

Nat Rev Neurol. 2025 Apr;21(4):204-215. doi: 10.1038/s41582-025-01065-y. Epub 2025 Mar 3.

Abstract

Friedreich ataxia (FRDA) is a rare multisystem, life-limiting disease and is the most common early-onset inherited ataxia in populations of European, Arab and Indian descent. In recent years, substantial progress has been made in dissecting the pathogenesis and natural history of FRDA, and several clinical trials have been initiated. A particularly notable recent achievement was the approval of the nuclear factor erythroid 2-related factor 2 activator omaveloxolone as the first disease-specific therapy for FRDA. In light of these developments, we review milestones in FRDA translational and clinical research over the past 10 years, as well as the various therapeutic strategies currently in the pipeline. We also consider the lessons that have been learned from failed trials and other setbacks. We conclude by presenting a global roadmap for future research, as outlined by the recently established Friedreich's Ataxia Global Clinical Consortium, which covers North and South America, Europe, India, Australia and New Zealand.

Publication types

  • Review

MeSH terms

  • Biomedical Research* / trends
  • Friedreich Ataxia* / diagnosis
  • Friedreich Ataxia* / epidemiology
  • Friedreich Ataxia* / genetics
  • Friedreich Ataxia* / therapy
  • Humans