In this episode, David N. Lieberman, MD, PhD, and Eric Marsh, MD, PhD, discuss recent updates relevant to the treatment of Rett syndrome, including:

• The recently updated Comprehensive Care Guidelines from the International Rett Syndrome Foundation, available at rettsyndrome.org
• Ongoing collection and analysis of longitudinal data within the Rett Syndrome Natural History Study
• Efficacy and safety data from the double-blind, placebo-controlled phase III registrational LAVENDER trial evaluating oral trofinetide, a small molecule analogue of insulin-like growth factor 1
• Topline results from phase III AVATAR and EXCELLENCE trials of the sigma-1 receptor agonist blarcamesine
• Several early ongoing gene therapy trials

Dr Lieberman and Dr Marsh complement this informative update with wisdom from their own clinical experience to provide a full picture of current treatment and management options available to patients with Rett syndrome.

Presenters:

David N. Lieberman, MD, PhD
Director, Comprehensive Rett Syndrome Clinic
Department of Neurology
Boston Children's Hospital
Boston, Massachusetts

Eric Marsh, MD PhD
Clinical Director, Orphan Disease Center
Director (MPI), CHOP/Penn IDDRC
Professor, Departments of Neurology and Pediatrics
Division of Neurology
Children’s Hospital of Philadelphia
Perelman School of Medicine
University of Pennsylvania
Philadelphia, Pennsylvania

This content is part of an online CME program in partnership with the International Rett Syndrome Foundation and supported by an educational grant from Acadia Pharmaceuticals. Link to full program:
https://bit.ly/4fJRRL0

Link to CME: Claim Credit - https://bit.ly/3OByCaE

In this episode, Drs. Halford and Hahn discuss the current treatment landscape of developmental and epileptic encephalopathies (DEEs), such as Lennox-Gastaut syndrome and Dravet syndrome, and the emerging role of brain cholesterol in addressing seizure frequency. The full episode covers:

• How to diagnose these epilepsies and the FDA-approved treatment options in the first-line and second-line settings
• The role of antiseizure medications in DEE treatment management
• The nonpharmacological treatment options available to patients with DEEs
• The emerging role of brain cholesterol in neurologic diseases like DEEs and Alzheimer’s disease
• Results from the ELEKTRA clinical trial, including cholesterol synthase inhibitors’ impact on seizure frequency
• The future of soticlestat as a treatment option for pediatric patients with DEEs

Presenters:

Jonathan J. Halford, MD
Professor
Director, Translational Research Unit
Department of Neurology
Medical University of South Carolina
Charleston, SC

Cecil Hahn, MD, MPH, FRCPC
Professor
Pediatric Epileptologist
University of Toronto
Toronto, Ontario, Canada

Content based on an online CME program supported by an independent educational grant from Takeda Pharmaceuticals U.S.A., Inc.

Link to full program: 
https://bit.ly/45UUpQy

Link to CME: Claim Credit - https://bit.ly/3wbVkA1

In this episode, Drs. Halford and White discuss the emerging role of brain cholesterol in the development and potential treatment of neurological diseases like epilepsy or Alzheimer and Huntington diseases. The full episode covers:

• Overview of brain cholesterol and its function in the body
• Pathogenesis potential for certain diseases via brain cholesterol
• Emerging research on a cholesterol synthase inhibitor as a novel therapy
• The future of soticlestat as a potential treatment option for pediatric epilepsies—Lennox-Gastaut syndrome and Dravet syndrome—and other neurological diseases

Presenters:

Jonathan J. Halford, MD
Professor
Director, Translational Research Unit
Department of Neurology
Medical University of South Carolina
Charleston, SC

H. Steve White, PhD
Professor, Department of Pharmacy
Co-Director, Center for Epilepsy Drug Discovery
School of Pharmacy
University of Washington
Seattle, Washington