Gene therapy for inborn errors of metabolism: Batten disease

Dolan Sondhi, Ronald Crystal, Stephen M. Kaminsky

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Citation (Scopus)


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.

Original languageEnglish
Title of host publicationTranslational Neuroscience
Subtitle of host publicationFundamental Approaches for Neurological Disorders
PublisherSpringer US
Number of pages19
ISBN (Electronic)9781489976543
ISBN (Print)9781489976529
Publication statusPublished - 1 Jan 2016
Externally publishedYes



  • AAV vectors
  • Batten disease
  • Central nervous system
  • Experimental therapies
  • Gene therapy
  • Lysosomal storage disorders
  • Phase I clinical trials in academic setting
  • Preclinical development
  • Translational medicine

ASJC Scopus subject areas

  • Medicine(all)
  • Neuroscience(all)
  • Agricultural and Biological Sciences(all)

Cite this

Sondhi, D., Crystal, R., & Kaminsky, S. M. (2016). Gene therapy for inborn errors of metabolism: Batten disease. In Translational Neuroscience: Fundamental Approaches for Neurological Disorders (pp. 111-129). Springer US.