Researchers at the University of Rochester have uncovered significant differences in how Batten disease progresses in males and females, according to a new study published in the Journal of Neurodevelopmental Disorders on March 15, 2025. This groundbreaking research focuses on the most common type of the disease, known as CLN3, which impacts brain development and function, primarily in children aged four to seven.
Batten disease manifests through severe symptoms, including vision loss, cognitive decline, movement difficulties, seizures, and speech issues. The complexity of these symptoms complicates treatment research, particularly in understanding how they manifest differently in male and female patients. Historically, it has been noted that female patients with CLN3 often experience a later onset of symptoms compared to their male counterparts, accompanied by a more rapid progression of the disease.
In this study, researchers employed a noninvasive technique called electroencephalography (EEG) to monitor brain electrical activity in mouse models of CLN3 disease. Utilizing an auditory test, they assessed how male and female mice responded to changes in sound patterns. The findings revealed that while male mice exhibited early auditory challenges that improved as they aged, female mice faced persistent auditory difficulties throughout the study.
“Because vision and cognition decline early, it is hard for scientists to track how the disease progresses and develop reliable treatments using standard tests,” stated Yanya Ding, Ph.D., the study’s first author. Her insights underline the potential of this animal model to enhance research into therapeutic solutions for Batten disease.
The study’s co-senior authors, John Foxe, Ph.D., and Kuan Hong Wang, Ph.D., emphasized that these findings underscore the importance of monitoring brain function over time. Wang noted, “This EEG-based method serves as a valuable tool for tracking disease progression and testing new treatments.” The ability to observe the disease’s progression differently in males and females could lead to more personalized therapies and better outcomes for patients.
The University of Rochester serves as an Intellectual and Developmental Research Center (IDDRC), focusing on neuromarker discovery related to Batten disease. Current efforts aim to advance several potential gene therapies, which are nearing the final stages of development. The translational mouse model introduced in this study will play a crucial role in evaluating the effectiveness of these experimental treatments.
Other contributors to the study include co-first author Jingyu Feng, along with Viollandi Prifti, Grace Rico, Alexander Solorzano, Hayley Chang, and Edward Freedman, Ph.D., all affiliated with the University of Rochester Medical Center. The collaborative nature of this research highlights the ongoing commitment to understand Batten disease and improve therapeutic strategies for affected individuals.
The study’s results provide a clearer understanding of how age and sex influence the progression of Batten disease, offering hope for developing targeted interventions that can significantly enhance the quality of life for those affected.
