David Anderson, PhD of Spark Therapeutics is helping the company develop a gene therapy for Batten disease. In this clip, Dr. Anderson describes this rare disease and the need for a gene therapy to cure this progressive, neurodegenerative disorder.
Batten disease is a rare lysosomal storage disorder with multiple subtypes. Spark Therapeutics is focused on finding a treatment for the CLN2 form of the disease that is due to a mutation in the TTP1 gene, a gene responsible for the production of tripeptidyl peptidase I.
Dr Anderson summarizes the pathophysiology of the condition and said, “If you don’t have this gene (TTP1), you can’t process proteins appropriately in vesicles in the brain and you get a buildup of peptides and a buildup of other lysosomal storage debris.”
The end result of the accumulation of this debris is cell death. Dr Anderson said, “in some parts of the body this is not a big deal but when you’re in the brain you have very limited supply of neurons,” adding that these children grow fairly normally but around the age of 4 or 5 years of age, symptoms will start to appear. “Often in a child, it’s a seizure which is complicated because when you see a seizure your doctor doesn’t normally think about Batten disease, they think about one of the many types of seizure disorders, so it takes a while to go through that problem,” noted Dr. Anderson, adding, “It is during that period of time you’re losing neurons .… you’re losing things in the cortices you’re losing neurons in the deep brain structures. And we can’t replace those, they’re gone.”
As the disease progresses, the child will lose their cognitive abilities, motor abilities, sight, speech, etc. Eventually, the child will require assistance with feeding and breathing, and will likely die after about an 8 year period if not treated.
For more information, visit http://sparktx.com/