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

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.

More information about the ARGUS trial and trial locations can be found at argustrial.com or at 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.

Longboard Pharmaceuticals, Inc. is testing the investigational drug LP352 for adults with Developmental and Epileptic Encephalopathy (DEE), including Dravet syndrome. LP352 is a serotonin-modulating drug (called a 5-HT2C superagonist).

In this study, researchers want to test the safety of multiple doses of the investigational drug LP352 and find out how it works when given in addition to antiseizure medication to adults with DEE. The study will assess any adverse events as well as changes in motor seizure frequency.

Approximately 50 participants will be assigned to receive the investigational drug or placebo in this study. To be eligible for this study, participants must have a reliable caregiver or study partner. Participants must also be:

  • 18 to 65 years of age
  • Diagnosed with DEE
  • Currently taking 1 to 4 antiseizure medications at a stable dose

In this study, participants will continue their antiseizure medication and will also be assigned to receive either:

  • LP352 immediate release liquid formulation by mouth or through their G-tube/PEGtube.
  • Placebo for LP352 (placebo is a substance that looks like the study drug but has no active drug in it)

Participants will have an 80% chance of being assigned to active drug.

The study is divided into three periods over up to 22 weeks:

    • a screening/baseline period
    • a treatment period that is divided into three parts (Part 1, where the study drug will be assigned and the dose will increase; Part 2, where the dose will stay the same; and Part 3, where the dose will decrease)
    • a follow-up period

To learn more, you can download this informational brochure or visit the study website. You can also find the study listed at clinicaltrials.gov.

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 clinical research study of an investigational medication for children, teens, and young adults,
ages 2 to 21, diagnosed with Dravet syndrome. The investigational medication, soticlestat, works differently than currently approved
medications and is being tested as an add-on therapy in the clinical research study. All participants will continue with their standard anti-seizure medication during the study.

Throughout participation in the 25-week study, all study-related visits, tests, and the investigational medication will be provided at no cost. Reimbursement for expenses related to study participation such as travel, meals, etc., may also be available. Study staff will determine eligibility based on additional study criteria. To learn more about the clinical research study or to find out if you,
your child, or a loved one may qualify, please visit the Skyline Study website at skyline-study.com or clinicaltrials.takeda.com.

Download the Study Brochure

The STARS Study is testing an inhaler containing an investigational drug to see whether it could help people who experience prolonged epileptic seizures (i.e. lasting more than 3 minutes).

This is a Phase 3, double-blind, randomized, placebo-controlled study to assess the efficacy and safety of Staccato Alprazolam in study participants age 12 years and older with stereotypical prolonged seizures. The primary and secondary outcome measures will focus on treatment success for the treated seizure and recurrence of seizures in the hours following treatment, as well as gathering information on safety and any adverse events.

Learn more and find study sites at the STARS trial website.

Download the STARS Participant Brochure

You can also find more information on the trial at clinical trials.gov