May 15, 2008

Gene Therapy for Fatal Neurodegenerative Disease in Children

  • Gene therapy to replace the faulty CLN2 gene, which causes a neurodegenerative disease that is fatal by age 8-12 years, was able to slow significantly the rate of neurologic decline in treated children, according to a paper published online ahead of print in the May 2008 issue (Vol. 19 No. 5) of Human Gene Therapy, a peer-reviewed journal published by Mary Ann Liebert, Inc. The paper, entitled "Treatment of Late Infantile Neuronal Ceroid Lipofuscinosis with CNS Administration of a Serotype 2 Adeno-associated virus expressing the CLN2 cDNA", is available free online at

    During this week's GEN podcast, Dr. Ronald Crystal, one of the authors of the paper, addresses the key results of the research team's study. He provides details on the nature of Late Infantile Neuronal Ceroid Lipofuscinosis, also known as LINCL, including its causes, symptoms, and prevalence. Dr. Crystal also explains why the scientists chose the AAV gene therapy approach and talks about the benefits and side effects observed during the study. In addition, Dr. Crystal discusses both the challenges that remain for successful gene therapy for LINCL and his team's plans for future research in this area.