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Opportunities for mitochondrial disease gene therapy

The last decade has seen major progress in the molecular diagnosis of rare inherited diseases, underpinning gene-targeted therapies that are now in the clinic. However, new treatment development is slow and very expensive. Here, we highlight the opportunities for mitochondrial disorders, the challenges and some of the potential solutions.
  1. Carlo Viscomi

    1. Department of Biomedical Sciences, University of Padova, Padova, Italy; Veneto Institute of Molecular Medicine, Padova, Italy.

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  2. Jelle van den Ameele

    1. MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK; Department of Clinical Neuroscience, School of Clinical Medicine, University of Cambridge, Cambridge, UK.

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  3. Kathrin C. Meyer

    1. Center for Gene Therapy, Nationwide Children’s Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University, Columbus, OH, USA.

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  4. Patrick F. Chinnery

    1. MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK; Department of Clinical Neuroscience, School of Clinical Medicine, University of Cambridge, Cambridge, UK.

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Rare diseases affect less than 1 in 2,000 people, but with over 7,000 different diseases, together they present a major healthcare challenge affecting over 300 million people worldwide. Technological advances in gene therapy mean that, in the foreseeable future, many families with a genetic diagnosis will expect a treatment for their disabling and often fatal condition. The opportunities and challenges of gene-targeted therapy are particularly relevant for mitochondrial disorders, which affect ~1 in 4,300 people.

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Nature Reviews Drug Discovery 22, 429-430 (2023)

doi: https://doi.org/10.1038/d41573-023-00067-z

Acknowledgements

P.F.C. is a Wellcome Principal Research Fellow (212219/Z/18/Z), and a UK NIHR Senior Investigator, who receives support from a Wellcome Collaborative Award (224486/Z/21/Z), the Medical Research Council (MRC) Mitochondrial Biology Unit (MC_UU_00028/7), the MRC International Centre for Genomic Medicine in Neuromuscular Disease (MR/S005021/1), the Leverhulme Trust (RPG-2018-408), an MRC research grant (MR/S035699/1) and an Alzheimer's Society Project Grant (AS-PG-18b-022). C.V. is supported by the Telethon Foundation (GGP20013), Associazione Luigi Comini Onlus (MitoFight2) and the Department of Biomedical Sciences—UNIPD (SID2022- VISC_BIRD2222_01. J.v.d.A. is a Wellcome Clinical Research Career Development Fellow (219615/Z/19/Z), who receives support from the Evelyn Trust (21-25), the MRC Mitochondrial Biology Unit (MC_UU_00028/8) and the BBSRC (BB/X00256X/1). This research was supported by the NIHR Cambridge Biomedical Research Centre (BRC-1215-20014). The views expressed are those of the authors and not necessarily those of the NIHR or the Department of Health and Social Care.

References

  1. Gorman, G. S. et al. Mitochondrial diseases. Nat. Rev. Dis. Primers 2,16080 (2016).

    Article  PubMed  Google Scholar 

  2. Schon, K. R. et al. Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study. BMJ 375, e066288 (2021).

    Article  PubMed  Google Scholar 

  3. Falabella, M., Minczuk. M., Hanna, M. G., Viscomi, C. & Pitceathly. R. D. S. Gene therapy for primary mitochondrial diseases: experimental advances and clinical challenges. Nat. Rev. Neurol. 18, 689–698 (2022).

    Article  PubMed  Google Scholar 

  4. Viscomi, C. & Zeviani, M. Strategies for fighting mitochondrial diseases. J. Intern. Med. 287, 665–684 (2020).

    Article  PubMed  Google Scholar 

  5. Sabatini, M. T., Xia, T. & Chalmers, M. Pricing and market access challenges in the era of one-time administration cell and gene therapies. Pharmaceut. Med. 36, 265–274 (2022).

    PubMed  Google Scholar 

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Supplementary Information

  1. Supplementary Figure

Competing Interests

The authors declare no competing interests.

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