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Dravet Syndrome Disorders

Dravet Syndrome Disorders. Evan Fertig Director of Research Director of NEREG Dravet Program Northeast Regional Epilepsy Group. Outline. What is Dravet ? How do we diagnosis it? Dravet Genetics How do we treat it?. A Brief History of Dravet Syndrome. Dravet Life Timeline.

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Dravet Syndrome Disorders

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  1. Dravet Syndrome Disorders Evan Fertig Director of Research Director of NEREG Dravet Program Northeast Regional Epilepsy Group

  2. Outline • What is Dravet? • How do we diagnosis it? • Dravet Genetics • How do we treat it?

  3. A Brief History of Dravet Syndrome

  4. Dravet Life Timeline

  5. Dravet Seizure Types Focal Generalized • Simple and Complex Partial seizures • Autonomic changes are prominent • Hemiclonic Seizures • Myoclonic • Generalized Tonic Clonic • Myoclonic Absence Seizures • Triggered by flashing lights • Can be prolonged • Atonic

  6. Conditions Associated with Dravet(Dravet.org)

  7. How Do We Diagnosis Dravet?

  8. Peas, Genes, and DNA 1953 1856

  9. What is a Gene? http://www.csiro.au

  10. The Structure of the Genome Genome Chromosome GENE A Mutation is a SPELLING ERROR here davidmaybury.ie http://

  11. Genes, Protein, and Disease Protein Gene Cell Mutation Neuron Nih.gov

  12. Brain Communication http://www.niaaa.nih.gov/NR/rdonlyres/9E5D5B9F-C28E-49F2-A925-33886A82E4D5/0/synapsebetween_neurons.gif

  13. How do Neurons (Brain Cells) work? Ion Channel Sodium Channel: Excites! Potassium, Choride Channel: Rests!

  14. SCN1A-related seizure disorders

  15. Treatment of Dravet Syndrome

  16. How do we Treat Dravet: Teamwork

  17. Dravet Anti-Seizure Treatment Goals

  18. Avoid Seizure Triggers

  19. Should children with Dravet get Vaccines?

  20. First Line Medicines for Dravet Syndrome in the United States

  21. Ketogenic Diet for Dravet Syndrome Carabolla 2005

  22. Stiripentol (Diacomnit) • Only med with placebo controlled evidence • Evidence of efficacy from 2 short-term and 1 long-term European studies • Prescribed with Clobazam (onfi) +/- VPA (depakote)

  23. Not FDA Approved • Orphan Drug Status • Medicaid Covered in some States

  24. How Does Stiripentol Work?

  25. Stiripentol Study •  71 % vs. 5 %; Responders • Almost half of the stiripentol recipients were seizure free during this period compared with none in the placebo group.

  26. Side Effects and Interactions • 21 patients on stiripentol had moderate side-effects (drowsiness, loss of appetite) compared with eight on placebo, but side-effects disappeared when the dose of comedication was decreased in 12 of the 21 cases. • Drug interactions • Clobazam • Depakote • Neutropenia

  27. How Stiripentol is Taken

  28. Stiripentol dosing • Comes in 250 mg or 500 mg capsule, or sachet • Taken twice or three times a day • Lower Clobazam by 20% before dosing • No need to change depakote dose

  29. Possible Efficacy? • Keppra • Zonegran • Bromides • VNS • Felbamate • Steroids? • IVIG? • NOT effective: Resective Epilepsy Surgery

  30. Treatment Approach

  31. Conclusion • No Magic Bullet for treatment • Intense Research Efforts are Ongoing • Dravet.org

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