Current Clinical Trials &
Treatment Pipeline
Learn about opportunities to participate in research studies and what treatments are being developed for Dravet syndrome
Participate in Research
Currently Enrolling Clinical Studies in Dravet Syndrome
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, including: 1) sharing their information 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, and there are many more in the development pipeline.
The Dravet Genome Study is a health research project launched by Children’s Hospital of Philadelphia (CHOP) and funded by DSF. The Dravet Genome Study, funded by DSF, will explore the diverse spectrum of outcomes that occur within Dravet syndrome and other SCN1A-related epilepsies using genetic analyses and medical histories. A very frequent topic of discussion in the community is how patients may differ in response to medications, severity of symptoms, and long-term outcomes despite having similar or even identical mutations in the SCN1A gene. This project aims to shed more light on other genetic factors that may impact this spectrum of outcomes. Learn more and sign up here.
Download the flyer in English
Descargar este folleto en Español
For more information email: scn1a@chop.edu
A new study titled “GABA Biomarkers in Dravet Syndrome” is taking place at and sponsored by Cook Children’s Medical Center in Fort Worth, Texas in collaboration with Encoded Therapeutics.
The study is seeking participants aged up to 18 years with a diagnosis of SCN1A+ Dravet syndrome. This is a non-interventional study, which means study participants will not receive any experimental treatments.
Previous research has indicated that a chemical messenger in the brain, called GABA, is impacted in Dravet syndrome. The researchers in this study will use techniques to non-invasively measure the electric and magnetic activity in the human brain to try to develop biomarkers for levels of GABA in the human brain. The study will also involve blood draws to measure levels of GABA in the blood. Identifying a biomarker like this would be useful for understanding GABA mechanism in children with Dravet syndrome and could potentially guide the development of future treatments.
The study is posted on ClinicalTrials.gov (ID: NCT05651204)
If you are interested to learn more about participation, you can contact the study coordinators:
Sabrina Shandley, PhD
Phone: 682-715-5026
Email: NeuroResearch@cookchildrens.org
ENDEAVOR: A Clinical Study to Evaluate the Safety and Efficacy of ETX101, an AAV9-Delivered Gene Therapy in Infants and Children With SCN1A-Positive Dravet Syndrome
ENDEAVOR is a Phase 1/2, 2-part, multi-center study in the United States to evaluate the safety and efficacy of ETX101 in participants with SCN1A-positive Dravet syndrome aged 6 months to less than 36 months.
Part 1 follows an open-label, dose-escalation design, and Part 2 is planned following demonstration of safety and efficacy in Part 1.
Additional details can also be found in the study listing at clinicaltrials.gov (NCT05419492).
Study Contact:
Name: Encoded Patient Advocacy
Phone Number: (650) 398-4301
Email: patientadvocacy@encoded.com
Study Locations and Contacts:
Location: UCSF Benioff Children’s Hospital: San Francisco, California
Contact: Joseph Sullivan, MD; joseph.sullivan@ucsf.edu
Location: Cook Children’s Medical Center; Fort Worth, Texas
Contact: Dianna Grado, RN; Dianna.Grado@cookchildrens.org; (682)885-2844
For more information on ETX101 and current trials, including information on studies in the UK (EXPEDITION) and Australia (WAYFINDER), visit: https://encoded.com/programs/clinical-studies/
A 20-Week Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial of EPX-100 (Clemizole Hydrochloride) as Adjunctive Therapy in Children and Adult Participants With Dravet Syndrome (ARGUS Trial)
In a Phase II, multicenter, randomized, double-blind, placebo-controlled study, Harmony Biosciences (previously sponsored by Epygenix Therapeutics) will test the investigational drug, EPX-100 (Clemizole Hydrochloride, oral solution), as an adjunctive therapy for children and adults with Dravet syndrome (2 years and older) 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 locations can be found at ARGUStrial.com or at Clinicaltrials.gov (NCT04462770)
The Jazz Piccolo Study is investigating the safety and effectiveness of cannabidiol (or CBD oral solution) in infants (2 years of age and younger) with Tuberous Sclerosis Complex (TSC), Lennox-Gastaut Syndrome (LGS) or Dravet Syndrome (DS) who experience inadequately controlled seizures.
The Jazz Piccolo Study will involve up to 10 visits to a study clinic and 12 telephone calls and will include a:
- 4 week screening/baseline period
- 52-week treatment period
- 10-day taper following completion of the 52-week treatment regiment
- 4-week safety/follow-up period
Children who are eligible and participate in the Jazz Piccolo Study will receive the investigational drug, as well as study-related visits, tests and assessments, at no cost. Participants can stop taking part in the clinical trial at any time without giving a reason. Caregivers of participants may also be reimbursed for some study-related expenses, such as costs associated with travel and hotels.
Your child may be eligible* if they:
- have a confirmed diagnosis of Dravet syndrome
- are between 1 year and less than 2 years of age
- have seizures not adequately controlled with current antiseizure medications
- currently receive 1 or more antiseizure medication
*Additional inclusion and exclusion criteria apply.
For more information including study site locations and contact information, visit the Piccolo Study website.
You can also download the Piccolo Study brochure
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.
For more information, to ask questions, or to join the study, contact Arunan Selvarajah: arunan.selvarajah@uhnresearch.ca.
A Double-Blind, Randomized, Placebo-Controlled, Multicenter, Outpatient, Parallel-Group Study to Assess the Efficacy and Safety of Staccato Alprazolam in Study Participants 12 Years of Age and Older With Stereotypical Prolonged Seizures
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 find detailed information on the trial at clinical trials.gov
- Additionally, you can watch this recorded session from the 2022 DSF Family and Professional Conference
Open-Label, Single-Arm, Phase 3 Study to Evaluate Safety, Tolerability, and Pharmacokinetics of Fenfluramine (Hydrochloride) in Infants 1 Year to Less Than 2 Years of Age With Dravet Syndrome
The ORCHID study is evaluating an investigational oral medication called fenfluramine hydrochloride in young children 1 to <2 years of age with Dravet syndrome.
Your child may be eligible to participate if they:
- Are 1 to less than 2 years of age
- Have a documented or likely diagnosis of Dravet syndrome
- Are currently receiving at least 1 anti-seizure medication at a stable dose for at least 4 weeks prior to joining the study
- Are not currently receiving more than 4 anti-seizure medications
- Have had 4 or more motor seizures in the 28 days prior to joining the study
- There are additional criteria that need to be met, which the study team at the study center will discuss with you
To learn more and see if your child may be able to take part in this study, visit the study website at orchidstudy.com
For additional details, find the study listing on clinicaltrials.gov (NCT06118255)
What is in the pipeline for Dravet?
The following companies have indicated that they are working on a medication or treatment that might be effective for patients living with Dravet syndrome. We have added links to each website for more information.
DSF places a high priority on funding research that has a clear path to genetic understanding, clinical application, and/or therapeutic development. Click here to view DSF Funded Research.
Therapeutic Pipeline for Dravet Syndrome
Genetic-Based Therapies
- Denotes US FDA Orphan Drug Designation for Dravet syndrome
Last Updated July 2024
Why should you be cautious about sharing personal experiences in an active clinical trial?
With so many clinical trials for Dravet syndrome actively enrolling, it is an important time to consider the impacts that talking about experiences in an ongoing trial can have on the outcomes. Social media has changed the way we exchange information, and now it has the potential to influence clinical trial outcomes. Broad sharing of clinical trial details could have significant consequences and could affect your child’s participation in the trial. Read More
Clinical Trial Phases
Sometimes clinical trial phases are combined, particularly in rare diseases where the study population is small but has large unmet medical needs. You may see trials that are Phase 1/2a for example, where primary safety studies also evaluate if the medication is effective at the same time.
Phase I
Researchers test a new drug or treatment in a small group of healthy volunteers and/or people with the disease for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Purpose: Safety and Dosage
Phase II
The drug or treatment is given to a larger group of patients to see if it is effective and to further evaluate its safety.
Purpose: Efficacy and Side Effects
Phase III
The drug or treatment is given to large groups of patients to confirm its effectiveness while still monitoring for safety.
Purpose: Efficacy and Adverse Reactions
FDA Approval
FDA approval of a drug means that after reviewing the information from the clinical trials, the drug is determined to provide benefits that outweigh its known and potential risks for the intended population.
Phase IV
Studies are done after the drug or treatment has been marketed to gather information on the drug’s effect in various populations and any side effects associated with long-term use.
Purpose: Long-term Safety and Efficacy
*More than one Phase III study may be required before a New Drug Application (NDA) may be submitted to the FDA.
Clinical Trials Glossary
Clinical research studies come in two main forms: interventional and observational. Observational studies, including Natural History Studies, gather information about patients with a specific disorder or diagnosis to better understand how the disorder presents in terms of symptoms, severity, and progression over time. Observational studies do not provide any type of treatment or therapy, but occur in addition to a patient’s normal medical care coordination. Interventional studies provide at least some of the participants in the study with an investigational intervention (such as a medication, procedure, or therapy) to determine if the intervention has an effect on measured symptoms.
A placebo is a “sham” treatment or substance without any therapeutic effect (such as a sugar pill) designed to be used in a study in place of the experimental treatment. In a placebo-controlled trial, a
certain proportion of study participants are given a placebo in place of a study drug so that group of study participants can be used as a comparison to determine if the study drug provided any benefit. Importantly, most participants, and often the study research team, are unaware of who received the placebo and who received the study drug until after the data is collected (see below section on “blinded
studies”).
Double-blinded studies mean that participants and researchers are not aware of who is in each study group (for example: placebo group versus investigational drug). This helps to prevent any bias, or unintentional effects of people’s emotions affecting the results of the trial. Because often everyone involved in a trial is hopeful that the experimental intervention will improve patient’s symptoms, this can create an unintentional bias towards results that support that conclusion. Sometime studies may be triple or quadruple blind, meaning even the researchers analyzing the data are unaware of the groups until the very end of the study. If no one is aware of who is receiving the study drug and who is receiving the placebo until after the results are analyzed then there is much less chance for bias to impact the results.
In a randomized trial, volunteers are assigned randomly to different groups (for example, the placebo group or investigational drug groups of varying doses). Randomly means participants are chosen by chance, and not by selection based on their characteristics, disease severity, or medical history. This helps to prevent bias, allowing for more reliable answers.
Outcome measures, also sometimes called “endpoints,” are the specific symptoms or characteristics that are being measured in participants in an interventional trial. Outcome measures are clearly outlined prior to the initiation of a clinical trial. Primary outcomes measures will be the symptom or characteristic measured which researchers consider to be the most important and if a significant change is measured during the trial in this outcome, the intervention is considered effective. In Dravet syndrome, changes in the frequency of convulsive seizures are often the primary outcome measure. Secondary outcome measures are other symptoms and characteristics that the researchers think will be important to measure, but not as important as the primary outcome measures.
Inclusion and exclusion criteria (or “eligibility criteria”) establish the characteristics that will allow an individual to participate (or be excluded from) a clinical study. These characteristics can include things such as age, gender, previous or current treatment history, and presence of other medical conditions. The goal of a clinical trial is to answer a specific research question, such as how well an investigational drug treats specific symptoms. Researchers specify inclusion and exclusion criteria to help them assess their specific question in the safest and most accurate way possible. Inclusion and exclusion criteria usually are different for every trial.
A study sponsor is responsible for overseeing, paying, and collecting the data for a clinical trial. The sponsor can be an individual, company, institution, group, or organization; most often, you will notice a pharmaceutical or biotechnology company is the sponsor.
Once a patient is approved for a clinical trial, but before any treatment begins, the study organizers will give them an informed consent document. Informed consent is the process of agreeing to participate in a clinical trial after learning all the details of the study. The informed consent document should contain details of the purpose of the study, how the study is conducted, how any personal medical information will be shared, specific requirements of participation, risks and benefits of participation, how long the study will last, any costs or payments to the participant, and important study contact information.
After reviewing the informed consent document, participants will sign the form if they wish to proceed. Taking part in a trial is voluntary. Participants can decide not to sign the informed consent and discontinue the trial. Signing the informed consent is not a contract to participate; participants can leave a trial at any time, for any reason.
Clinical trials monitor safety of an intervention in every phase. Adverse events are any unfavorable change in the health of a study participant while in the trial or within a set time after a trial has ended. An adverse event is not always caused by the intervention or investigational treatment that is being studied. Keeping track of any adverse event that occurs within participants in a trial can help researchers to determine if any of the adverse events are directly related to the study drug and/or if additional safety precautions are warranted.