Grant: Operating Grant:Bringing Rare Disease Gene Therapies to Clinical Trial Readiness

Rare brain disorders can affect all levels of brain functioning and drastically impair daily functioning. A mutation in a single gene is known to cause many rare brain disorders and thus may be candidates for gene therapy. Gene therapy is the targeting of the underlying genetic cause of disease to decrease or stop symptoms. We are a team of basic and clinician scientists at three different hospital in Montreal. Currently we are running clinical trials in gene therapy at our hospitals to treat rare brain disorders. The purpose of this application is to build capacity for rare brain disease in which we have significant expertise. By tackling specific roadblocks that we are actively working on, we will establish procedures that can be used to develop gene therapy treatments for other rare brain disorders. The ultimate goal of this project is to more rapidly create gene therapy treatments for neurological disorders that are viable candidates for human clinical trials. Our goals for this project are: 1)To test a novel gene therapy candidate made by us in three different virus types using brain cells derived from human patients. We want to assess how well different virus types can produce the missing gene product in different brain cell types. 2)To establish gene therapy testing in non-human primates to ensure safety for humans. In this goal, we will experiment with routes of gene therapy delivery and how well gene therapy gets expressed and in what brain areas. 3)To work with communities of patients to identify clinical variables of importance to patients and their families that can be used in human clinical trials to ensure therapies are useful. This project brings together significant expertise in all aspects of rare neurological disorders in children and adults to address major roadblocks to developing gene therapy treatments for rare brain disorders.