PARTICIPATE IN RESEARCH

Research is our best hope for advancing treatments and eventually finding a cure for Dravet syndrome and associated epilepsies. Research is not just the responsibility of scientists and doctors. It is important that patients participate to whatever extent they are able.

Patients can participate in research in several ways, including: 1) sharing their information with scientists through patient registries so researchers can understand how Dravet syndrome affects individuals; and 2) volunteering for clinical studies or trials to help doctors understand how treatments affect patients. In rare diseases such as Dravet syndrome, it can be difficult for potential treatments to reach the required number of participants to be granted FDA approval. In the absence of large numbers, we must leverage the resources we do have, which include our strong patient community.

Clinical studies seek to answer questions such as:

  • Does this investigational drug work?
  • Does it work better than another medicine already available?
  • Does it cause any side effects?
  • Are there any other benefits that could improve patient quality of life?

Since 2018, thanks to community engagement and study participation, three new medications have received approval from the FDA for the treatment of Dravet syndrome.

CURRENT RESEARCH STUDIES IN DRAVET SYNDROME

American University, in collaboration with Children’s National Medical Center, is currently recruiting for a virtual clinical trial. They are recruiting children and young adults (ages 2- 21) that have epilepsy. Participants need to have already tried and failed two anti-epileptic medications and must be currently experiencing four or more seizures per month. This clinical trial is testing the effectiveness of the low glutamate diet for epilepsy. This is a healthy whole food diet which restricts the consumption of food additives which contain glutamate.

You can find an in-depth information sheet with more details here.

Take their pre-screening survey, which will inform you if your child may qualify for the study and who to email for further information.

More information about the study can be found on clinicaltrials.gov and their website: https://www.american.edu/cas/health/nutrneurolab/studies.cfm

If you are interested in learning more about this exciting dietary research, please contact Gabrielle Sarlo at [email protected] or (516) 652-0920

Study Name: Prospective Collection of Whole Blood from Healthy Subjects and Those Diagnosed with Dravet Syndrome to Identify Potential Biomarkers for Dravet Syndrome

This is a research study carried out by Sanguine, a provider of at-home clinical research services. The goal is to collect whole blood samples from 50 patients with Dravet syndrome for research conducted by Stoke Therapeutics. Participation is done completely in the comfort of your own home. A small blood donation is required for the study, and a mobile medical professional will work around your schedule to meet you in your home to perform the blood draw.

With the concern regarding the spread of COVID-19, all mobile medical professionals will be provided personal protective equipment (PPE) including gowns, face masks, gloves, hand sanitizer, and alcohol wipes in order to protect participants and staff against the spread of the virus.

You may qualify to participate if your child:

  • Is between the ages of 2-25
  • Is diagnosed with Dravet syndrome
  • Lives in the U.S

To learn more or sign up, visit https://patients.sanguinebio.com/dravet-syndrome-study/ or call (818) 583-8844 to speak with a research coordinator and see if you qualify.

Eisai Inc. has launched a Phase 3 clinical trial called Momentum I to study the efficacy of lorcaserin as an adjuctive (add-on) treatment in Dravet syndrome to reduce seizure frequency. This is a quadruple-blinded, placebo-control study is seeking to enroll 58 participants in a 14-week core study, with the potential for participants to enter an additional 12-week open-label extension phase following completion of the core study. Patients must be 2 years of age or older, have a diagnosis of Dravet syndrome, and have at least 4 convulsive seizures during the 4-week baseline period. Enrollment is now open and study sites are still being added. Find more information on the Momentum I study for lorcaserin at clinicaltrials.gov .

In a Phase II, multicenter, randomized, double-blind, placebo-controlled study, Epygenix will test the investigational drug, EPX-100 (Clemizole Hydrochloride, oral solution), as an adjunctive therapy for children with Dravet syndrome (2-17 years old) who suffer from uncontrolled seizures. The trial will take place at investigational sites in the US.

The study goal is to compare EPX-100 efficacy versus placebo (measured by percent change in seizure frequency).

To participate, your child would need to meet eligibility criteria. At a minimum, these criteria include:

  • Clinical and genetic diagnosis of Dravet syndrome
  • Seizures not adequately controlled by current anti-epileptic drugs
  • Experience 4 or more convulsive seizures during a 4-week baseline period

Your child’s personal data will remain private and confidential. Any medical data collected in the study will be used exclusively for therapy development. The aim is to develop transformative therapies to improve the lives of patients and families living with Dravet syndrome.

Trial site locations and contact information are listed here, and more information on the trial and trial locations can also be found on Clinicaltrials.gov NCT04462770

You can watch an overview of the ARGUS trial here.

You can watch an informational webinar by Epygenix for DSF here and slides from the presentation can be downloaded here.

Dr. Danielle Andrade at the University of Toronto is leading a study to better understand Dravet syndrome in adult patients. While they would like to know about seizure frequency, they also want to understand other aspects of daily life for adults with Dravet syndrome including behavior, gait, posture, and mood. Participants will be sent links to several questionnaires and asked to provide some video recordings (a tutorial on the video recordings will be provided to participants to explain more).

The first 100 participants will have the opportunity to be compensated for participation.

You can watch a video of Dr. Andrade discussing the study below. For more information, to ask questions, or to join the study, contact Arunan Selvarajah: [email protected].

The MONARCH Study, conducted by Stoke Therapeutics, is currently enrolling for a Phase1/2a trial of STK-001. This new therapeutic medicine acts to specifically increase the number of healthy sodium channels (Nav1.1) that are impacted by mutations in SCN1A gene, the most common cause of Dravet syndrome. The study will focus on safety and tolerability, as well as assessing the efficacy of STK-001 to reduce seizure activity and patient health. It should take 7-9 months to complete, including 1 dose of the medication, a total of 8 visits to the study site, and 3 phone calls.

Clinical trial information can be found on ClinicalTrials.gov.

A quick information sheet can be found here.

For more detailed information, please visit this link or email [email protected].

STK-001 is part of a new technology called TANGO that Stoke Therapeutics is leveraging to treat haploinsufficiencies like Dravet syndrome. If you would like to find out more about the science behind this approach, you can read this TANGO explainer provided by Stoke Therapeutics.

The Skyline Study is a Phase 3, quadruple-blind placebo-control clinical trial for soticlestat as an add-on therapy for seizures in Dravet syndrome. The study will be assessing if the investigational medication, soticlestat, reduces the reduces the number of convulsive seizures in children and young adults with Dravet syndrome.

Eligible participants would be an individual with a clinical diagnosis of Dravet syndrome between the ages of 2 and 21 years that is having four or more convulsive seizures each month for the last three months that have not been controlled by at least two other anti-seizure medications in the past.

Learn more at clinicaltrials.gov or from the Takeda website.