Dr. Jason Hauptman, Surgical Director, Pediatric Epilepsy, at Seattle Children's Hospital, and associate professor of neurosurgery at University of Washington medical school. He also holds a PhD in neuroscience. Here, he presents an overview of the mTOR pathway, cortical dysplasias and other conditions, and the latest in mTOR inhibitors like Everolimus. Dr. Hauptman is an expert in the cellular neurophysiology of epilepsy in cortical dysplasias and tuberous sclerosis.
This session is helpful for families of children diagnosed with various brain malformations that cause epilepsy, as well as those considering other treatments after failed epilepsy surgery.
Summary:
[0:00 - 2:00] Introduction
Speaker: Dr. Jason Hauptman, neurosurgeon at Seattle Children’s Hospital.
Context: Remote presentation while camping with family; focus on epilepsy treatment, particularly mTOR inhibitors.
[2:01 - 4:00] Personal Story and mTOR Discovery
Personal Example: Dr. Hauptman shares a case of a patient who had epilepsy surgery and later underwent genetic sequencing, revealing an mTOR gene mutation.
Relevance of mTOR Pathway: The pathway's relevance in neurological disorders, including epilepsy, is highlighted.
[5:00 - 10:00] Introduction to mTOR Inhibitors
What is mTOR?: mTOR is a protein involved in cell regulation. Its malfunction is linked to conditions like tuberous sclerosis and other forms of epilepsy.
Exciting New Research: Research shows mTOR inhibitors have potential for treating epilepsy, especially in cases where surgery alone is ineffective.
[12:00 - 20:00] Challenges in Epilepsy Surgery
Surgical Complexity: Cortical dysplasia, the most common reason for pediatric epilepsy surgeries, is difficult to detect on MRI. This makes surgical outcomes unpredictable.
Recurrence of Seizures: Even after surgery, a significant number of children experience seizure recurrence, prompting the need for alternative treatments like mTOR inhibitors.
[22:00 - 30:00] Clinical Trials for mTOR Inhibitors
Clinical Trial Overview: Dr. Hauptman describes a clinical trial testing the safety of mTOR inhibitors (ABI-009) in children who failed surgery.
Promising Results: One patient (P06) achieved seizure freedom for over a year after taking the drug.
Trial Design: Limited by a four-week treatment window, but promising enough for an open-label extension.
[31:00 - 40:00] Safety and Future Studies
Safety Findings: The trial showed no significant side effects, proving that mTOR inhibitors are safe for children with epilepsy.
Next Steps: A larger Phase II trial is being planned to study the long-term effectiveness of mTOR inhibitors in pediatric epilepsy.
[42:00 - 50:00] mTOR Inhibitors Beyond Surgery
Potential as a Replacement for Conventional Drugs: Dr. Hauptman speculates that mTOR inhibitors could replace traditional anti-epileptic medications due to fewer side effects.
Personalized Medicine: Genetic understanding is crucial for identifying patients who would benefit the most from mTOR inhibitors.
[52:00 - 1:02:00] Audience Q&A: Genetic Sequencing and Preventative Measures
Genetic Sequencing: Dr. Hauptman suggests that sequencing brain tissue removed during surgery could help predict treatment outcomes and tailor future therapies.
Prophylactic Use of mTOR Inhibitors: While current research is not conclusive on using mTOR inhibitors preventively after surgery, it is an area of interest.
[1:10:00 - End] Conclusion
Future of Epilepsy Treatment: Dr. Hauptman envisions a future where mTOR inhibitors and genetic-based treatments may reduce the need for invasive surgeries like hemispherectomies.
#epilepsy #epilepsysurgery #seizures #hemispherectomy #hemispherotomy #mTORinhibitor #hemimegalencephaly #corticaldysplasia #tuberoussclerosis #everolimus #rapamycin
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