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Clinical trial strategies for rare neurodevelopmental disorders: challenges and opportunities

Novel clinical evaluation strategies are needed to fulfil the potential of targeted therapies for rare neurodevelopmental disorders.
  1. Michelle L. Krishnan

    1. Roche Innovation Center Basel, Basel, Switzerland. Present address: Novartis Gene Therapies, Basel, Switzerland.

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  2. Elizabeth Berry-Kravis

    1. Rush University Medical Center, Chicago, IL, USA.

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  3. Jamie K. Capal

    1. Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, NC, USA.

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  4. Randall Carpenter

    1. Rett Syndrome Research Trust, CT, USA.

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  5. Paul Gringras

    1. Evelina London Children's Hospital, King’s College University, London, UK.

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  6. Joerg F. Hipp

    1. Roche Innovation Center Basel, Basel, Switzerland.

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  7. Meghan T. Miller

    1. Roche Innovation Center Basel, Basel, Switzerland. Present address: Skyhawk Therapeutics, Waltham, MA, USA.

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  8. Ana Mingorance

    1. Dracaena Consulting, Madrid, Spain.

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  9. Benjamin D. Philpot

    1. University of North Carolina, Chapel Hill, NC, USA.

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  10. Mathew T. Pletcher

    1. Roche Innovation Center Basel, Basel, Switzerland. Present address: Audentes Therapeutics, San Francisco, CA, USA.

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  11. Alexander Rotenberg

    1. FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.

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  12. Jorrit Tjeertes

    1. Roche Innovation Center Basel, Basel, Switzerland.

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  13. Paul P. Wang

    1. Simons Foundation, New York City, NY, USA; Yale School of Medicine, New Haven, CT, USA.

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  14. Tom Willgoss

    1. Roche Products Limited, Welwyn Garden City, UK.

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  15. Marie-Claire de Wit

    1. ENCORE expertise center, Erasmus MC, Rotterdam, Netherlands.

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  16. Shafali S. Jeste

    1. Semel Institute of Neuroscience and Human Behavior, University of California, Los Angeles, California, USA.

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Rare neurodevelopmental disorders (RNDDs) are neurological conditions caused by genetic mutations and variants. Although they are individually rare, RNDDs collectively affect 2–5% of children with neurodevelopmental disease and have substantial societal and economic impact, with lengthy diagnostic odysseys and lifelong disease management by affected families.

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Nature Reviews Drug Discovery 20, 653-654 (2021)

doi: https://doi.org/10.1038/d41573-021-00085-9

Acknowledgements

This article is based on discussions between an expert panel convened and funded by F. Hoffmann-La Roche Ltd in November 2018.

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Supplementary Information

  1. Supplementary information

Competing Interests

The authors declare no competing interests.

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