Gene Therapy for the Late Infantile Form of Batten Disease

Dolan Sondhi, Neil R. Hackett, Stephen M. Kaminsky, Mark M. Souweidane, Michael G. Kaplitt, Ronald G. Crystal

Research output: Chapter in Book/Report/Conference proceedingChapter


This chapter describes a program to assess gene transfer as a therapeutic approach to delay the neurological decline in children with the late infantile form of neuronal ceroid lipofuscinosis (LINCL). The disease arises from the autosomal-recessive inheritance of rare mutations in the CLN2 gene leading to a deficiency in the lysosomal protease tripeptidyl peptidase I (TPP-I). The challenge for a potential treatment is to obtain a therapeutic level of the target protein throughout the brain over the long term. Direct injection into the brain of a gene transfer vector derived from AAV serotype 2, AAV2cuhCLN2, was chosen as the most easily implemented approach to begin a human clinical study. The ongoing study provides an insight on the feasibility of this approach in slowing the neurodegeneration in children with LINCL as well as potentially using similar approaches to treat other neurodegenerative diseases of lysosomal storage.

Original languageEnglish
Title of host publicationGene Therapy of the Central Nervous System
Subtitle of host publicationFrom Bench to Bedside
PublisherElsevier Inc.
Number of pages17
ISBN (Print)9780123976321
Publication statusPublished - 1 Dec 2006


ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Sondhi, D., Hackett, N. R., Kaminsky, S. M., Souweidane, M. M., Kaplitt, M. G., & Crystal, R. G. (2006). Gene Therapy for the Late Infantile Form of Batten Disease. In Gene Therapy of the Central Nervous System: From Bench to Bedside (pp. 317-333). Elsevier Inc..