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First regulatory qualification of a digital primary endpoint to measure treatment efficacy in DMD

Nature Medicine volume 29, pages 2391–2392 (2023)Cite this article

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The development of effective therapies is contingent on the ability to detect the effects of treatment on disease progression. This is particularly challenging for neurological diseases, for which objective and robust endpoints that measure functional disease progression are often lacking, reducing the probability of technical and regulatory success for new treatment options. Reliable and sensitive digital outcome measures that continuously assess functional ability during normal daily life can revolutionize the evaluation of disease progression and facilitate drug development. The first-ever regulatory qualification of a digital variable, the stride velocity 95th centile (SV95C), as a primary endpoint by the European Medicines Agency (EMA), represents a landmark event that establishes the value of digital health technology and endpoints for drug approval.

Duchenne muscular dystrophy (DMD) is a rare monogenic disease that causes progressive loss of muscle function and premature death. Despite extensive research and development efforts, DMD remains the leading cause of severe disability and early death in boys with monogenic muscle disorders, highlighting the need for new treatment options1,2.

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Fig. 1: Data collection and analysis using SV95C.

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Acknowledgements

The authors thank the collaborators, investigators, patients and family members who have contributed to previous and ongoing SV95C studies. This Correspondence article is dedicated to M. Annoussamy, who could not approve the final version, as she sadly passed away shortly before the final draft; the authors are immensely grateful for her leadership and invaluable efforts during the EMA qualification process. Medical writing support was provided by J. Ciarochi of Nucleus Global, in accordance with Good Publication Practice (GPP) 2022 guidelines (https://www.ismpp.org/gpp-2022) and was funded by F. Hoffmann-La Roche Ltd.

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Authors and Affiliations

  1. Department of Paediatrics, MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK

    Laurent Servais

  2. Division of Child Neurology, Department of Pediatrics, Centre de Référence des Maladies Neuromusculaires, University Hospital Liège and University of Liège, Liège, Belgium

    Laurent Servais

  3. SYSNAV, Paris, France

    Damien Eggenspieler, Marc Grelet & Mélanie Annoussamy

  4. Department of Neurology, Centre de Référence des Maladies Neuromusculaires, University Hospital Liège and University of Liège, Liège, Belgium

    Margaux Poleur

  5. Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, London, UK

    Francesco Muntoni

  6. F. Hoffmann-La Roche Ltd, Basel, Switzerland

    Paul Strijbos

Authors
  1. Laurent Servais
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  2. Damien Eggenspieler
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  3. Margaux Poleur
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  4. Marc Grelet
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  5. Francesco Muntoni
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  6. Paul Strijbos
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  7. Mélanie Annoussamy
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Corresponding author

Correspondence to Laurent Servais.

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Competing interests

L.S. has conducted consultancy and given lectures for F. Hoffmann-La Roche Ltd, Sarepta Therapeutics, Santhera Pharmaceuticals, Pfizer, Dyne, RegenexBio and SYSNAV. D.E. is an employee of SYSNAV. M.G. is a former employee of SYSNAV. F.M. has conducted consultancies and given lectures for F. Hoffmann-La Roche Ltd, Sarepta Therapeutics, Santhera Pharmaceuticals, Eli Lilly and Company, Pfizer, Wave Life Sciences Ltd, PTC Therapeutics and Dyne Therapeutics. P.S. is an employee of and holds stock in F. Hoffmann-La Roche Ltd. M.A. is an employee of SYSNAV. M.P. declares no conflicts of interest.

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Servais, L., Eggenspieler, D., Poleur, M. et al. First regulatory qualification of a digital primary endpoint to measure treatment efficacy in DMD. Nat Med 29, 2391–2392 (2023). https://doi.org/10.1038/s41591-023-02459-5

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