EMERALD Study Meeting Summary

Hello and welcome to Science with Sandra!

For this edition, I would like to share a summary of the meeting the GLUT1 Deficiency community had with Praxis Precision Medicines on Tuesday, August 26th. Praxis Precision Medicines is a clinical-stage biopharmaceutical company that develops therapies for disorders of the central nervous system characterized by neuronal excitation–inhibition imbalance.

Julia Chase and Kelley Del Real from Praxis shared details about the EMERALD Study for patients with Developmental and Epileptic Encephalopathies (DEE), focusing on the trial design and the potential benefits of their drug, Relutrigine. Relutrigine is a small molecule designed to maximize its effects against overactive sodium channels believed to cause seizure activity, while minimizing the blocking of normal activity needed for healthy brain function.

Relutrigine has already been tested in a Phase I clinical study with healthy participants to determine safety and dosing, and it was approved to move on to a Phase II clinical trial, which is currently ongoing. The first part of the Phase II study involved a small cohort (group) of SCN2A and SCN8A patients. Results so far have shown a 46% seizure reduction in participants after 4 months on the trial, and a 90% reduction after 11 months. In addition, participants have shown improvements on the Clinical Global Impression (CGI) scale, a brief, stand-alone assessment of a clinician’s view of a patient’s overall functioning before and after starting a study medication. The CGI scale used in this study evaluates adaptive behavior, communication, alertness and awareness, and seizure severity and intensity.

The Emerald Study is a Phase II/III double-blind study, meaning neither the participants nor the investigators know who is receiving the drug and who is receiving placebo. Relutrigine is an investigational medicine in liquid form that can be administered orally or through a G-tube.The study runs for 32 weeks. For the first 16 weeks, half of the participants will receive Relutrigine and half will receive placebo. After that, all participants will transition to Relutrigine for an additional 16 weeks in what is called an open-label extension. After the 32-week trial, if patients experience positive effects and wish to continue using the drug, they may do so through an expanded access program.

Inclusion criteria for the study:

• Open to any patient with a DEE diagnosis
  
• Ages 2 to 65 years old
  
• A minimum of four countable motor seizures (seizures involving movement) in the 4 weeks prior to screening
  
• May be taking antiseizure medication, but no more than 2 sodium channel blockers at the time of the study
  
• May be on the ketogenic diet

Participation options:

1. In person at a clinical trial site
   
2. At home, where a physician and nurse visit the participant’s home to conduct assessments and lab work
   
3. Hybrid, combining home participation with some visits to the clinical site
   

The study aims to enroll 160 participants and hopes to complete enrollment within 9 months.

If you are interested in learning more about the study, you can find additional information at the following link.

Notes:

• GLUT1 Deficiency is considered a DEE.
  
• Kelley Del Real emphasized that patients planning to participate cannot make changes to their current treatment for at least 30 days before the screening process.
  
• At this time, only patients in the United States can participate, but trial sites in Italy, Germany, Spain, Brazil, and Australia are expected to open by the end of the year.
  
• Travel stipends are available if needed.

More Resources:

information about countable motor seizures
EMERALD Study flyer
EMERALD Study website