Episode 141: Refining TSC Care: Phenotyping, Clustering, and Clinical Impact

Ajay Gupta, MD

Episode 141 of the NeurologyLive^® Mind Moments^® podcast is now live! Scroll down to listen or click here to subscribe on your favorite streaming service.

The Mind Moments podcast features exclusive interviews with leaders in the field discussing the latest research and disease management strategies across the breadth of neurology, including epilepsy, multiple sclerosis, Parkinson disease, dementia, sleep disorders, and more.

In this episode, "Refining TSC Care: Phenotyping, Clustering, and Clinical Impact," Ajay Gupta, MD, director of the Tuberous Sclerosis Program at Cleveland Clinic, discusses recently published research that used unsupervised clustering to group over 900 patients with tuberous sclerosis complex (TSC) into four clinically meaningful phenotypic clusters. He outlines the distinct traits of each cluster—ranging from tumor risk to cognitive impairment—and explains how variant-specific genetic data helped reinforce these categories. Gupta, who also serves as a professor of neurology at the Cleveland Clinic Lerner School of Medicine, also explores the clinical value of these findings for surveillance planning, early intervention, and future therapeutic trials. He emphasizes that while overlap between clusters exists, this approach lays essential groundwork for precision care and more targeted research in TSC.

The stories featured in this week's Neurology News Minute, which will give you quick updates on the following developments in neurology, are further detailed here:

• FDA AdComm Plans to Review Investigational Cell Therapy Deramiocel for DMD Cardiomyopathy
• Gene Therapy AAV-GAD Gains Regenerative Medicine Advanced Therapy Designation as Potential Parkinson Treatment
• Microbiome-Targeting Therapy MaaT033 Continues to Show Promise in Final Phase 1 Readout

EPISODE BREAKDOWN

• 1:00 – Study goals and the shift from genotype-to-phenotype toward phenotype-to-genotype mapping
• 2:40– Overview of the 4 main phenotypic clusters identified in the TSC population
• 8:05 – Genetic domain associations and their impact on clinical monitoring and treatment
• 11:50 – Neurology News Minute
• 14:45 – Understanding overlap between clusters and avoiding overprediction in clinical settings
• 17:00 – Implications for future surveillance strategies and precision candidate selection in TSC trials

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