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

被引:6
作者
Gropman, Andrea L. [1 ]
Uittenbogaard, Martine N. [2 ]
Chiaramello, Anne E. [2 ]
机构
[1] Childrens Natl Med Ctr, Div Neurogenet & Neurodev Pediat, Washington, DC 20010 USA
[2] George Washington Univ, Sch Med & Hlth Sci, Dept Anat & Cell Biol, Washington, DC 20037 USA
关键词
Mitochondrial medicine; Patient-centric approach; Clinical trial; Next generation therapeutics; Energy metabolism; MOUSE MODEL; THERAPEUTIC MANAGEMENT; CONSENSUS STATEMENT; ARGININE THERAPY; LACTIC-ACIDOSIS; DISEASE; DISORDERS; DIAGNOSIS; MELAS; BIOMARKER;
D O I
10.1016/j.neurot.2023.e00311
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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.
引用
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页数:12
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