Developing EEG Biomarkers for Genetic Neurodevelopmental Disorders

Targeted therapies for genetic neurodevelopmental disorders are advancing, but clinical trials remain limited by the lack of objective, sensitive biomarkers that can measure brain function, demonstrate target engagement and detect early signs of treatment efficacy.

The COMBINEDBrain EEG Bank Project is designed to address this need by creating a standardized, high-quality EEG data resource across genetically defined neurodevelopmental disorders. Electroencephalography, or EEG is a non-invasive measure of neuronal electrical activity that is scalable and is typically tolerated in individuals with developmental disabilities. EEG is collected both retrospectively and prospectively at COMBINEDBrain roadshows or in-home collection.

EEG provides a window into cortical network function and can capture neurophysiological changes that may not be detected through behavioral assessments alone.

Quantitative EEG measures may help identify:

• Disorder-specific EEG signatures
• Biomarkers of severity
• Pharmacodynamic and target engagement signals
• Patient stratification tools
• Exploratory, primary and secondary outcome measures

Regulatory and Clinical Trial Relevance

EEG biomarkers are not yet fully qualified for most rare neurodevelopmental disorders, but are increasingly being incorporated into early-phase interventional trials. The COMBINEDBrain EEG Bank is designed to help generate the evidence needed to move EEG biomarkers from exploratory biomarkers toward primary and secondary outcome measures.

Project Objectives

The COMBINEDBrain EEG Bank Project aims to:

• Collect standardized EEG data across rare genetic neurodevelopmental disorders
• Support longitudinal biomarker collection
• Provide EEG files to research groups for analysis and biomarker development to enable objective endpoints
• Accelerate interventional clinical trials and improve efficiency in therapeutic development

Why Advocacy Group Participation Matters

Patient advocacy organizations are essential partners in this effort. Broad participation will help ensure that EEG datasets are rich, diverse enough and clinically meaningful in order to support biomarker validation for each disorder community. The COMBINEDBrain EEG Bank Project is a collaborative effort to generate high-quality, reusable EEG data that can benefit multiple rare disease communities. Together, we can build objective, biologically meaningful biomarkers that improve clinical trials and bring the field closer to effective treatments for individuals living with genetic neurodevelopmental disorders.

Help build EEG biomarkers that can strengthen future clinical trials.

Partner with COMBINEDBrain to support standardized EEG data collection, longitudinal biomarker development and endpoints for rare genetic neurodevelopmental disorders.

Please contact: EEGBank@combinedbrain.org