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

Publisher: Springer Country of Publication: United States NLM ID: 101290381 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-7479 (Electronic) Linking ISSN: 18787479 NLM ISO Abbreviation: Neurotherapeutics Subsets: MEDLINE

Publication: 2011- : New York : Springer
Original Publication: Orlando, FL : Elsevier, c2007-

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

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.
Competing Interests: Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Anne Chiaramello (Corresponding author) and Andrea Gropman (co-author) reports financial support was provided by National Institutes of Health, National Center for Advancing Translational Sciences. Anne Chiaramello reports financial support was provided by U.S. Department of Defense.
(Copyright © 2023 The Author(s). Published by Elsevier Inc. All rights reserved.)

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UH3 TR003897 United States TR NCATS NIH HHS

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

Date Created: 20240124 Date Completed: 20240216 Latest Revision: 20241028

20241028

PMC10903101

10.1016/j.neurot.2023.e00311

38266483