Challenges and opportunities to bridge translational to clinical research for personalized mitochondrial medicine

Neurotherapeutics. 2024 Jan;21(1):e00311. doi: 10.1016/j.neurot.2023.e00311. Epub 2024 Jan 19.

Abstract

Mitochondrial disorders are a group of rare and heterogeneous genetic diseases characterized by dysfunctional mitochondria leading to deficient adenosine triphosphate synthesis and chronic energy deficit in patients. The majority of these patients exhibit a wide range of phenotypic manifestations targeting several organ systems, making their clinical diagnosis and management challenging. Bridging translational to clinical research is crucial for improving the early diagnosis and prognosis of these intractable mitochondrial disorders and for discovering novel therapeutic drug candidates and modalities. This review provides the current state of clinical testing in mitochondrial disorders, discusses the challenges and opportunities for converting basic discoveries into clinical settings, explores the most suited patient-centric approaches to harness the extraordinary heterogeneity among patients affected by the same primary mitochondrial disorder, and describes the current outlook of clinical trials.

Keywords: Clinical trial; Energy metabolism; Mitochondrial medicine; Next generation therapeutics; Patient-centric approach.

Publication types

  • Review

MeSH terms

  • Humans
  • Mitochondria* / genetics
  • Mitochondrial Diseases* / diagnosis
  • Mitochondrial Diseases* / genetics
  • Mitochondrial Diseases* / therapy
  • Precision Medicine