Gene therapy for inborn errors of metabolism: Batten disease Chapter uri icon


MeSH Major

  • Blood Platelets
  • Glycolysis
  • Oxygen Consumption


  • © Springer Science+Business Media New York 2016.The development of a gene therapy for inborn errors of metabolism is a multifaceted challenge that rides on organizational, fi nancial, and scientifi c 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.

publication date

  • January 2016



  • Book Chapter


Digital Object Identifier (DOI)

  • 10.1007/978-1-4899-7654-3_7

Additional Document Info

start page

  • 111

end page

  • 129