Batten disease is a rare and fatal genetic neurological condition that affects the ability of cells to process waste materials. Those materials build up in brain cells and result in a range of symptoms including seizures, vision loss, motor and speech difficulty, slowed learning and personality changes. Eventually, children with Batten disease become blind, wheelchair-bound and bedridden, having lost all their cognitive function. Most affected children die in their early teens.
Researchers at the Oregon National Primate Research Center (ONPRC) at OHSU have discovered a naturally occurring disease in Japanese macaques that mimics the progression of Batten disease in humans. The finding holds promise for developing gene therapies to treat the disease. Human clinical trials could start within five years.
Trevor McGill, PhD, research assistant professor of ophthalmology in the OHSU School of Medicine, said the discovery will accelerate the development of new gene therapies for Batten disease.
“It affects small children and it’s fatal,” McGill said, “and we’ve got the necessary tools in hand here at OHSU to fix it.”
A multidisciplinary team of veterinarians and scientists at ONPRC made the discovery and confirmed that a small population of Japanese macaque monkeys carries a genetic mutation that causes one form of the disease. It’s the only known model for the disease among nonhuman primates in the world.
“This has truly been a collaborative effort, bringing together the expertise of clinical veterinarians and pathologists, scientists with collective expertise in primate behavior and genetics as well as brain and retinal degeneration,” said Anne Lewis, D.V.M., PhD, head of pathology at the primate center.
“The discovery of this nonhuman primate model of Batten disease will advance our ability to develop and test a gene therapy strategy to replace the normal version of the protein that is missing in this disease,” said Jodi McBride, PhD and assistant professor of neuroscience at ONPRC.
Additionally, she said, this new discovery also opens up promising avenues for developing biomarkers of the disease’s progression using advanced imaging techniques such as MRI and PET scanning.
“We don’t have great imaging biomarkers for this disease aside from the gold standard of MRI and so we’re also interested in using this new model to develop imaging techniques that will allow us to determine how successful we are at clearing out the buildup of cellular debris in the brain with potential treatments.”
The ONPRC scientists said that their goal is to quickly develop interventional strategies that can be used to help treat the children suffering from this devastating and fatal disease and offer hope to their families.
