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The Bespoke Gene Therapy Consortium: facilitating development of AAV gene therapies for rare diseases

A public–private partnership managed by the FNIH aims to address biological, manufacturing and regulatory challenges to the development of gene therapies for rare diseases.
  1. P. J. Brooks

    1. National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.

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  2. Timothy M. Miller

    1. Thermo Fisher Scientific, Waltham, MA, USA.

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  3. Frédéric Revah

    1. Genethon, Evry, France.

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  4. Junghae Suh

    1. Biogen Inc., Cambridge, MA, USA.

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  5. Bradley R. Garrison

    1. Foundation for the National Institutes of Health, North Bethesda, MD, USA.

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  6. Lawrence C. Starke

    1. Novartis Pharmaceuticals Corporation, East Hanover, NJ, USA.

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  7. Timothy K. MacLachlan

    1. Biomedical Research, Novartis, Cambridge, MA, USA.

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  8. Edward G. Neilan

    1. National Organization for Rare Disorders, Quincy, MA, USA.

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  9. Gopa Raychaudhuri

    1. Center for Biologics Evaluation and Research, US Food and Drug Administration, Silver Spring, MD, USA.

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  10. Sadik H. Kassim

    1. Danaher Corporation, Washington DC, USA.

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  11. Jean Dehdashti

    1. National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.

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  12. Joni L. Rutter

    1. National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.

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According to recent estimates, there are more than 10,000 known human diseases that are considered rare — defined as affecting fewer than 200,000 people in the USA1. Collectively, these diseases affect upwards of 450 million people worldwide2. About 80% of rare diseases are monogenic, in which known alterations in a single gene are responsible for the clinical manifestations that result in significant morbidity and mortality. Monogenic diseases are potential candidates for gene therapies because the defective gene can be corrected or replaced, thereby restoring gene function to levels that show clinical benefit and arresting or reversing the disease state. Adeno-associated virus (AAV) gene therapies have the potential to provide long-term benefit for patients with diseases for which there currently are no treatments — a prospect that would be transformational in the treatment of many serious and life-threatening rare disorders3. However, many of these disorders are so rare, and the cost of development of gene therapy treatments is so high, that they are currently of no commercial interest.

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Nature Reviews Drug Discovery 23, 157-158 (2024)

doi: https://doi.org/10.1038/d41573-024-00020-8

Updates & Corrections

  • Correction 08 February 2024: The version of the article originally published online incorrectly stated that the BGTC was established by the FNIH. This has now been corrected.

References

  1. Lamoreaux, K. et. al. The Power of Being Counted. Rare-X https://rare-x.org/case-studies/the-power-of-being-counted (2022).

  2. Wakap, S. N. et. al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur. J. Hum. Genet. 28, 165–173 (2020)

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  3. Wang, D., Tai, P. W. L. & Gao, G. Adeno-associated virus vector as a platform for gene therapy delivery. Nat. Rev. Drug Discov. 18, 358–378 (2019).

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  4. Kingwell, K. ‘Bespoke Gene Therapy Consortium’ sets out to enable gene therapies for ultra-rare diseases. Nat. Rev. Drug Discov. 20, 886–887 (2021).

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  5. FNIH. Accelerating Medicines Partnership® Bespoke Gene Therapy Consortium. Complete Selection Process. Foundation for the National Institutes of Health https://fnih.org/wp-content/uploads/2023/05/BGTC-Clinical-Portfolio-Selection-Process.pdf (2023).

  6. FNIH. The Foundation for the National Institutes of Health announces selection of eight rare diseases for the Bespoke Gene Therapy Consortium clinical trial portfolio. Foundation for the National Institutes of Health https://fnih.org/news/the-foundation-for-the-national-institutes-of-health-announces-selection-of-eight-rare-diseases-for-the-bespoke-gene-therapy-consortium-clinical-trial-portfolio (2023).

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Supplementary Information

  1. Supplementary Tables

Competing Interests

T.M.M. is an employee of Thermo Fisher and owns stock in the company. J.S. is an employee of Biogen and owns stock in the company. L.C.S. and T.K.M. are employees of Novartis and own stock in the company. S.H.K. is an employee of Danaher.

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