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.
|Title of host publication||Gene Therapy of the Central Nervous System|
|Subtitle of host publication||From Bench to Bedside|
|Number of pages||17|
|Publication status||Published - 1 Dec 2006|
ASJC Scopus subject areas
- Biochemistry, Genetics and Molecular Biology(all)