New research conducted at the University of Rochester Medical Center may have uncovered a potential neuromarker for juvenile-onset Batten disease. Juvenile-onset Batten disease is a devastating neurodegenerative disorder that affects children and is caused by mutations in the CLN3 gene. The study, published in the Journal of Neurodevelopmental Disorders, focused on measuring changes in brain function related to auditory sensory memory in participants with CLN3 disease.
The researchers utilized electroencephalographic recordings (EEG) to measure brain activity in participants with and without Batten disease as they listened to simple auditory beeps. Simultaneously, the participants watched a video of their favorite movie. The results showed that the functioning of the auditory sensory memory system decreased as the disease progressed in individuals with Batten disease, while there were no significant changes in the control group.
This finding suggests that measuring changes in auditory sensory memory could serve as a target or biomarker for evaluating treatment outcomes in clinical trials for Batten disease. The researchers believe that this easy-to-measure brain process provides new insight into the brain function of individuals with different communication abilities.
Batten disease encompasses 12 genetically distinct forms, all of which significantly impact neurodevelopment in affected children. With several potential gene therapies for Batten disease in advanced stages of development, identifying biomarkers is crucial for evaluating the effectiveness of these experimental treatments.
The researchers at the Frederick J. and Marion A. Schindler Cognitive Neurophysiology Lab are using these findings to further their research. They plan to study a Batten disease mouse model and measure the impact of pharmaceuticals on the auditory perceptual system. Initially, they will investigate treatments that are already approved for other conditions.
The potential neuromarker identified in this study could be instrumental in screening and evaluating the effectiveness of treatments in the mouse models. By measuring the auditory sensory memory marker, researchers will be able to determine quickly if a treatment is making a positive impact on the brain function and dynamics. This knowledge is crucial in understanding the speed and extent of improvement and could greatly contribute to the development of effective treatments for Batten disease.
The researchers are hopeful that these findings will not only aid in the development of therapies for Batten disease but also provide insights into other related rare diseases. Despite its rarity, understanding Batten disease is vital as it can inform the study and treatment of similar conditions. The ability to measure and monitor brain function using an objective method like the auditory sensory memory marker could revolutionize clinical trials and improve the overall outcomes for patients.
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