The collaborating organizations were founded by family and friends of children afflicted with Batten disease, which is one of approximately 7,000 rare diseases that afflict 30 million people in the United States, or one in 10 Americans, and an estimated 350 million people worldwide. The cost in terms of human suffering and huge financial burdens make finding rare disease treatments a top public health priority.
Principal Investigator Steven Gray, Ph.D. is a member of the research team at the Gene Therapy Center at UNC. He is leading the Global Gene Transfer for Batten Disease project, which is modeled after a project at UNC that is focused on the ultra-rare childhood disease Giant Axonal Neuropathy (GAN) and is a parallel study in infantile (INCL, CLN1 mutation) and late infantile (LINCL, CLN2 mutation) Batten disease.
The project aims to test a global gene delivery platform in mouse models for INCL and LINCL, to see if it imparts a therapeutic benefit over previous gene therapy approaches. If these studies are successful, existing large animal biodistribution studies would pave a clear path forward for human translation following appropriate toxicology studies.
For human applications, the AAV-based intrathecal gene delivery platform would provide these benefits:
· A minimally-invasive injection route
· A moderate dose that could be readily manufactured at clinical grade by the Gene Therapy Center
· Efficient expression of the therapeutic gene throughout the entire brain and spinal cord volume that can be scaled to humans
For more information, visit:
Jasper Against Batten @ Cures Within Reach
(www.JasperAgainstBatten.org or www.4cures.org)
BeeforBattens, the National Batten Disease Charity of Ireland
UNC-Chapel Hill Gene Therapy Center
National Organization for Rare Disorders
Batten Disease Support and Research Association (BDSRA) (www.bdsra.org)
Media contact at Cures Within Reach: Amy Conn