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Gene Therapy for Inborn Errors of Metabolism: Batten Disease

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Translational Neuroscience

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Abstract

The development of a gene therapy for inborn errors of metabolism is a multifaceted challenge that rides on organizational, financial, and scientific issues. Using our experience with developing a gene therapy strategy for Batten disease [late infantile neuronal ceroid lipofuscinosis (LINCL), CLN2 disease], these factors are described in the context of the: (1) development of a therapeutic concept for a target disease; (2) pathway to proof of concept via preclinical studies; (3) translation to clinical development; (4) funding and the associated restrictions; (5) assembly of the clinical team; (6) regulatory and compliance requirements; and (7) the iterative process of using lessons learned to inform the next generation therapy. Our experience with each of these factors is demonstrated from our development and clinical translation for two generations of drug product applied to this fatal childhood disorder. Outlined are the descriptions of the hurdles encountered and our solutions, which should be informative for those who seek to develop a gene therapy for a rare disease.

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Acknowledgments

We thank N. Mohamed for editorial assistance. These studies were supported, in part, by NIH R01NS061848; Nathan’s Battle Foundation; and the Foundation for Life.

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Authors and Affiliations

  1. Genetic Medicine, Weill Cornell Medical College, 1300 York Avenue, Box 164, New York, NY, 10065, USA

    Dolan Sondhi PhD, Ronald G. Crystal MD & Stephen M. Kaminsky PhD

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  1. Dolan Sondhi PhD
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  2. Ronald G. Crystal MD
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  3. Stephen M. Kaminsky PhD
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Correspondence to Ronald G. Crystal MD .

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  1. UnivofCA-SanDiego,VeteransAdmintnMedCntr, Translational Neuroscience Institute, La Jolla, California, USA

    Mark H. Tuszynski

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Sondhi, D., Crystal, R.G., Kaminsky, S.M. (2016). Gene Therapy for Inborn Errors of Metabolism: Batten Disease. In: Tuszynski, M. (eds) Translational Neuroscience. Springer, Boston, MA. https://doi.org/10.1007/978-1-4899-7654-3_7

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