Advertisement
Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) is an autosomalrecessive genetic disorder that causes degeneration of the central nervoussystem. It is a form of Batten disease, a group of lysosomal storage diseasein which a lipofuscin-like material is not broken down and accumulates inneurons, causing cognitive impairment, visual failure, seizures, andprogressive deterioration of motor function.
Advertisement
Ronald Crystal and colleagues from Weill Cornell Medical College (NewYork, NY), describe a study conducted in 10 children with LINCL who receivedgene therapy to replace the defective CLN2 gene via administration of humanCLN2 carried in an adeno-associated virus (AAV). In the paper entitled"Treatment of Late Infantile Neuronal Ceroid Lipofuscinosis with CNSAdministration of a Serotype 2 Adeno-associated virus expressing the CLN2cDNA," the authors report that over an 18-month period, assessment using aneurologic rating scale demonstrated significant slowing of diseaseprogression in the treated, compared to the untreated children. On the basisof these findings, the authors proposed that additional studies to assess thesafety and efficacy of AAV-mediated gene therapy for LINCL be pursued.
Although the treatment was associated with some serious adverse events insome patients, these were not unequivocally attributable to the gene therapyvector.
"This clinical trial is an important step toward the development oftreatments for this group of underserved inherited neurodegenerativedisorders," says James M. Wilson, MD, PhD, Editor-in-Chief and Head of theGene Therapy Program, Department of Pathology and Laboratory Medicine, at theUniversity of Pennsylvania School of Medicine, in Philadelphia.
Human Gene Therapy, the Official Journal of the European Society of Geneand Cell Therapy and the British Society for Gene Therapy, is an authoritativepeer-reviewed journal published monthly in print and online that presentsreports on the transfer and expression of genes in mammals, including humans.Related topics include improvements in vector development, delivery systems,and animal models, particularly in the areas of cancer, heart disease, viraldisease, genetic disease, and neurological disease, as well as ethical, legal,and regulatory issues related to the gene transfer in humans. Tables ofcontents and a free sample issue may be viewed online.
Mary Ann Liebert, Inc. (www.liebertpub.com), is a privately held, fullyintegrated media company known for establishing authoritative peer-reviewedjournals in many promising areas of science and biomedical research, includingTissue Engineering, Stem Cells and Development, and Cloning and Stem Cells.Its biotechnology trade magazine, Genetic Engineering & Biotechnology News(GEN), was the first in its field and is today the industry's most widely readpublication worldwide. A complete list of the firm's 60 journals, books, andnewsmagazines is available online.
Contact: Vicki Cohn, Mary Ann Liebert, Inc., (914) 740-2100, ext. 2156,[email protected]
SOURCE Mary Ann Liebert, Inc.
