Bohring-Opitz Syndrome EEG biomarker study

Currently enrolling participants

About the study

Dr. Bianca Russell at UCLA and colleagues are studying the brain activity of individuals with changes in the ASXL1 gene (Bohring-Opitz Syndrome) to determine if there is an identifiable pattern in their brainwaves. The answer could help measure the effectiveness of future treatments for Bohring-Opitz Syndrome.

The research team is looking to see if there is a distinct pattern in the brainwaves of individuals with Bohring-Opitz Syndrome using a noninvasive test that measures brain activity called an electroencephalogram (EEG). If there is a distinct pattern, EEGs could serve as a biomarker in future clinical trials. A biomarker is a tool or measure that tells us something about a person’s health, like a temperature or blood pressure. Establishing biomarkers are a critical tool in the journey to finding treatments, because they allow us to measure an individual’s status before and after an intervention to see if there is a change.

This study is open to anyone with Bohring-Opitz Syndrome who is under the age of 18, lives in the continental United States or Canada, and does not have a secondary genetic condition or brain injury. Participating in the study includes an at-home EEG and a virtual interview with the study team about your loved one’s cognition. Your loved one does not need to have a history of seizures to participate.

How to enroll

To inquire about participating in the Bohring-Opitz Syndrome EEG Signature Study, please email asxl-chromatin-registry@mednet.ucla.edu.