Research in Progress
Investigator: Dr. Ron Crystal
Disease: Batten Disease
Research Description: Batten Diseases comprise a group of genetic diseases that affect children. Children with these gene defects are missing key enzymes that help to break down waste products in brain cells. These waste products build up, and eventually destroy the brain cells. This causes a loss of function in these children, and eventually death. Dr. Crystal and his team are undertaking a pilot clinical trial to determine the impact of putting a working copy of the affected gene into a virus that can then be injected into the brain. These brain cells would produce the missing enzyme, allowing the brain cells to survive and the children to thrive. If successful, this study could produce a life-saving treatment for children with Batten Disease.
CWR funding role: Primary funder
Start date: November 1, 2010
Most recent report: To date, four children have undergone this procedure without serious side effects. These children will be monitored to determine whether their disease slows, stops or reverses.
Anticipated next steps:
→ Data published in a scientific journal and/or presented at a scientific conference
→ Data leveraged into larger philanthropic or government funding for this treatment