PARTICIPATE IN RESEARCH

Dravet Syndrome Foundation feels strongly that 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?

CURRENT RESEARCH STUDIES IN DRAVET SYNDROME

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 MONARCH@iqvia.com.

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.

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

The ENVISION Study is an observational study of children aged 6 to 60 months with SCN1A-positive Dravet syndrome. Conducted by Encoded Therapeutics, ENVISION is designed to better understand the seizure, neurodevelopmental, motor and behavioral characteristics of Dravet syndrome over a period of 2 years using standardized assessments. The ENVISION study will also explore the impact of Dravet syndrome on parents/caregivers over the same period.  This study will be conducted at study centers in the United States, Australia and the United Kingdom and visits to the clinic for this study will occur every 6 months over the 2-year participation period.

ENVISION is a non-interventional study, which means that no treatments or investigational medications will be provided. Patients will receive their usual medical care and will be monitored in the study at regular intervals. The information collected in ENVISION may advance the understanding of Dravet Syndrome and potentially support development of novel therapies.

More information about the ENVISION study , including a list of participating centers, can be found at ClinicalTrials.gov. If you locate a participating site that you are interested in, you or your physician may contact that site directly for more information.

The BUTTERFLY Study, conducted by Stoke Therapeutics, is collecting information about the mental development, behavior, movement, communication skills, seizure frequency, and sleep pattern of young people with Dravet syndrome. The BUTTERFLY Study is an observational study, which means that no investigational medications or other treatments will be provided. Participants will continue to receive their usual care, and they will be observed by a team of doctors and nurses over time.

This non-interventional 2 year study, being conducted at approximately 20 sites in the U.S., will observe participants between the ages of 2-18. Participants will have 6 study visits, which may be combined with the participants usual care appointments. The information that is collected from this study may help doctors to investigate potential new treatment options for young people with Dravet syndrome in the future.

If you would like more information about the BUTTERFLY Studyplease email BUTTERFLYStudy@iqvia.com.

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 4- 21) that have epilepsy. Participants need to have already tried and failed two anti-epileptic medications and must be currently experiencing one or more seizures per week. 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. See an information sheet 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 nutrneurolab@american.edu or (516) 652-0920