NIH R01 · 2025
Network modulation to improve gene therapy in CLN3 disease
PROJECT SUMMARY Two-thirds of lysosomal storage disorders (LSD) affect the brain, yet most LSD treatments do not improve central nervous system (CNS) symptoms. Several trials of brain-directed gene therapy have failed to show clinical benefit despite restoring protein expression in the CNS. Outcomes are especially poor in subjects who have developed neurologic deficits, suggesting rescue of expression alone may be insufficient to correct function once diseased neuronal circuits are established. In CLN3 Disease, a representative LSD and the most common cause of pediatric dementia, patients develop blindness, seizures, and dementia. Several CLN3 disease mouse models have been developed. While…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.