Digital Biomarkers in GM1 & GM2 Gangliosidosis: Redefining Endpoints for Drug Development & Disease Monitoring

Mission and objectives

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This panel will explore the critical need for innovative digital biomarkers in monitoring GM1 and GM2 gangliosidosis, progressive neurodegenerative diseases with no approved diseasemodifying treatments. Attendees will gain insights into the potential of AI-powered video analysis, motion tracking, and vision assessments to provide more objective, high-resolution markers of disease progression. The session aims to highlight how these technologies can redefine endpoints, address the limitations of traditional clinical scales, and accelerate drug development for rare diseases.

Key objectives include:

• Understanding the role of digital biomarkers in tracking functional decline.
• Exploring the multidisciplinary approach needed to create validated, regulatory-accepted endpoints.
• Discussing real-world applications of AI-enhanced tools in patient monitoring and clinical trials.
• Navigating the evolving regulatory landscape and integrating real-world evidence for therapeutic approval.

By fostering collaboration between neurology, digital health, and regulatory experts, this session will help shape the future of GM1 and GM2 clinical trials.

Intended Audience

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• Clinicians: Neurologists, geneticists, and rare disease specialists interested in the latest developments in disease monitoring and endpoint validation for GM1/GM2 gangliosidosis.
• Advocacy Groups: Patient organizations and support networks advocating for GM1/GM2 research, seeking to understand innovative tools for improving patient care and advancing drug development.
• Industry Professionals: Biotech and pharmaceutical researchers focused on developing therapies for rare neurodegenerative diseases, looking for new, sensitive digital biomarkers and evidence generation strategies to enhance clinical trial design.
• Regulatory Experts: Professionals interested in the integration of digital endpoints into regulatory decision-making for rare diseases.

Expected Outcomes

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• Increased understanding of how AI-powered video assessments can improve sensitivity in tracking disease progression in GM1/GM2 gangliosidosis.
• Recognition of the need for novel digital biomarkers that complement traditional clinical scales to create robust regulatory endpoints.
• Insights into the multidisciplinary approach (neurology, ophthalmology, digital health, and realworld data) required to develop validated, objective measures for rare diseases.
• Awareness of regulatory agencies’ evolving stance on digital biomarkers and the integration of real-world data to support drug approval.
• Practical examples of how digital tools are being used in clinical trials and patient monitoring to accelerate therapy development.

Speakers

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