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Access to gene therapy for rare diseases when commercialization is not fit for purpose

Nature Medicine volume 29, pages 518–519 (2023)Cite this article

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Aiuti et al. recently highlighted that, despite promising preclinical and clinical efficacy data, hematopoietic stem-cell gene therapies for inherited diseases have not been widely adopted into clinical practice1. Ultra-rare diseases such as inborn errors of metabolism and inborn errors of immunity are, as their names suggest, individually rare diseases, affecting <1 in 50,000 people. However, such diseases have a profound impact on the lives of many individuals because of reduced life expectancy or chronic progressive morbidity.

As Aiuti et al. discuss, there are no effective curative treatments available for most inborn errors of metabolism2. Allogeneic hematopoietic stem-cell transplantation (alloHSCT) is considered a curative treatment for an increasing number of inborn errors of immunity; however, its use requires a suitable donor and, in spite of recent progress, carries significant risks of mortality and morbidity, mainly due to graft failure and graft-versus-host disease1,3. In this context, rare inherited diseases represent significant unmet clinical need for which gene therapy could potentially offer a lifelong curative option4.

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References

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Authors and Affiliations

  1. UCL Great Ormond Street Institute of Child Health, London, UK

    Thomas Fox, Adrian Thrasher & Claire Booth

  2. Biomedical Innovation Unit, Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT), Centro Investigación Biomédica en Red de Enfermedades Raras (CIBERER) and IIS Fundación Jiménez Díaz, Madrid, Spain

    Juan Bueren

  3. Division of Immunology and Allergy, University Hospital of Lausanne and Lausanne University, Lausanne, Switzerland

    Fabio Candotti

  4. Imagine Institute, Paris, France

    Alain Fischer & Marina Cavazzana

  5. San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute and Vita-Salute San Raffaele University, Milan, Italy

    Alessandro Aiuti & Maria Ester Bernardo

  6. Willem-Alexander Children’s Hospital, Department of Pediatrics, Stem Cell Transplantation Program, Leiden University Medical Center, Leiden, The Netherlands

    Arjan Lankester

  7. Dr. von Hauner Children’s Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany

    Michael Albert

  8. Hospital Necker–Enfants Malades, Assistance Publique–Hôpitaux de Paris, INSERM, Paris, France

    Marina Cavazzana & Benedicte Neven

  9. Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Faculty of Medicine, Medical Center–University of Freiburg, Freiburg, Germany

    Stephan Ehl

  10. International Patient Organisation for Primary Immunodeficiencies (IPOPI), Brussels, Belgium

    Johan Prevot

  11. Institute of Experimental Hematology, Hannover Medical School, Hannover, Germany

    Axel Schambach

  12. Onco-Hematology Department, Hospital Infantil Universitario Niño Jesús, Madrid, Spain

    Julian Sevilla

  13. Fundación Investigación Biomédica Hospital Infantil Niño Jesús (FIBHINJ), Madrid, Spain

    Julian Sevilla

  14. Blood and Marrow Transplant Unit, Royal Manchester Children’s Hospital, Manchester, UK

    Rob Wynn

Authors
  1. Thomas Fox
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  2. Juan Bueren
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  3. Fabio Candotti
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  4. Alain Fischer
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  5. Alessandro Aiuti
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  6. Arjan Lankester
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  7. Claire Booth
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Consortia

The AGORA Initiative

  • Michael Albert
  • , Maria Ester Bernardo
  • , Marina Cavazzana
  • , Stephan Ehl
  • , Benedicte Neven
  • , Johan Prevot
  • , Axel Schambach
  • , Julian Sevilla
  • , Adrian Thrasher
  •  & Rob Wynn

Corresponding author

Correspondence to Claire Booth.

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Competing interests

J.B. is a consultant to and has licensed advanced therapy medicinal products to Rocket Pharma. A.A. is principal investigator of clinical trials sponsored by Orchard Therapeutics, which has licensed gene therapy products for ADA-SCID, Wiskott-Aldrich syndrome, metachromatic leukodystrophy, β-thalassemia and mucopolysaccharidosis type I, originally developed at SR-Tiget, and is a member of the Committee for Advanced Therapies; his views are personal and may not be understood or quoted as being made on behalf of the European Medicines Agency. A.L. is principal investigator of an academic clinical trial for RAG-1 SCID with a licensing agreement to Mustang Bio. C.B. is an investigator of clinical trials sponsored by Rocket Pharma, Bluebird Bio, AvroBio and previously Orchard Therapeutics in addition to academic clinical trials.

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Fox, T., Bueren, J., Candotti, F. et al. Access to gene therapy for rare diseases when commercialization is not fit for purpose. Nat Med 29, 518–519 (2023). https://doi.org/10.1038/s41591-023-02208-8

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