Research advancements have led to improvements in clinical care and the development of novel treatments for Dravet syndrome (DS). Despite being rare, DS is one of the most well-studied genetic epilepsies. DSF and the Dravet community have played a large part in these advancements. DSF’s ability to fund over $9 million in research has only been possible through the tremendous fundraising efforts of the patient-family community. In addition, DSF has facilitated the convening of various stakeholders in the research community from basic scientists creating model systems to study DS to biotechnology and pharmaceutical professionals testing novel treatments in the clinical setting. In addition to funding and supporting research advancements, another important role of DSF and the patient community has been active participation in research. From taking surveys to donating biological samples, families are taking an active role in increasing our understanding of the full spectrum of symptoms and the impacts on day-to-day life with DS. New treatments would never reach FDA-approval without the participation of patient-families in clinical studies. When the patient community engages actively in research, advancements can happen more rapidly and benefit the entire community.
Below I will detail some of the current opportunities for patient families to participate in exciting research efforts for DS. You can stay up-to-date on future research opportunities by visiting DravetClinicalTrials.org, signing up for the DSF newsletter, and following DSF on social media.
- SHARE INFORMATION
- Complete a short survey looking at symptoms in adults (18+) with DS. Massachusetts General Hospital is hosting a study to better understand how to improve diagnosis of DS in adults by looking at the clinical features of adults with Dravet syndrome. If you are a caregiver to an individual with Dravet syndrome 18 years or older, you are asked to participate by completing this survey on their behalf. If you are interested in participating, the survey and more information can be found here: https://redcap.link/DravetAdults
- Does your loved one with DS (any age) have a history of seizures that respond positively to antibiotics? Fill out this form to volunteer to provide more information to researchers investigating this topic. Several caregivers have previously noted an association between use of antibiotics during illness and a change in seizure activity. Dr. Chris McGraw would like to understand how strong this association is or if there is an interaction between antibiotics, illness, and seizures. If your child has a history of seizures that respond positively to antibiotics, either associated with strep or another illness, and you would like to participate in this study please complete this brief survey form: https://www.surveymonkey.com/r/G3FN68Q
- Submit a home video of your loved one with DS (aged 2-12 years) to test a new research approach. A major challenge in the management of DS is determining whether or not a specific antiseizure medication will work for an individual patient. It can take many months before knowing if the medication will work and for some individuals it takes years (if ever) to find a medication that can adequately control their seizures. Researchers have used artificial intelligence (AI) and machine learning to analyze videos of mice behavior, providing information about epilepsy status and medication responses. They now hope to apply this technique to human children with DS. The research team is looking for videos of children with DS between the ages of 2-12 years going about normal activities (i.e. eating or playing). Ideal videos should include primarily only the child with DS, have good lighting, and minimal background objects or patterns. If you are interested in contributing a video or to find out more, contact moseq-study@umich.edu.
- DONATE SAMPLES
- Submit an at-home cheek swab and medical records for patients with SCN1A-related epilepsy to the DSF-funded Dravet Genome Study. Researchers at the Children’s Hospital of Philadelphia are exploring the diverse spectrum of outcomes that occur within Dravet syndrome and other SCN1A-related epilepsies using genetic analyses and medical histories from 500 individuals. Insights from this research could increase our understanding of Dravet syndrome, improve clinical care, and build a large database of genetic and clinical data that can be used for additional research efforts. To participate, email scn1a@chop.edu and include the patient’s name, age, and state of residence. Learn more in this blog post or at this study webpage.
- DSF is seeking two additional participants with Dravet syndrome (under the age of 18) carrying a truncating (aka ‘nonsense’) mutation in SCN1A to submit a blood sample to be used to create a stem cell line to be used as a resource for research. Participants must reside in the US, have a copy of their genetic report, and be able to travel to a medical provider or laboratory to have 2 vials of blood drawn. Read more in this blog post or email veronica@dravetfoundation.org for more information about participation. If you are unsure if your loved one’s mutation qualifies, please reach out.
- PARTICIPATE IN A CLINICAL TRIAL
- ENDEAVOR: A Clinical Study to Evaluate the Safety and Efficacy of ETX101, an AAV9-Delivered Gene Therapy in Infants and Children With SCN1A-Positive DS.ENDEAVOR is a Phase 1/2, 2-part, multi-center study in the United States sponsored by Encoded Therapeutics to evaluate the safety and efficacy of ETX101 in participants with SCN1A-positive DS 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 be found in the study listing at clinicaltrials.gov (NCT05419492).
- ARGUS: A 20-Week Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial of EPX-100 (Clemizole Hydrochloride) as Adjunctive Therapy in Children and Adult Participants With DS. ARGUS is a Phase II, multicenter, randomized, double-blind, placebo-controlled study, sponsored by Harmony Biosciences (previously sponsored by Epygenix Therapeutics). The study will test the investigational drug, EPX-100 (Clemizole Hydrochloride, oral solution), as an adjunctive therapy for children and adults with DS (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). More information about the ARGUS trial and locations can be found at ARGUSTRIAL.com or at Clinicaltrials.gov (NCT04462770)
- ORCHID An 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 The ORCHID study is evaluating an investigational oral medication called fenfluramine hydrochloride in young children 1 to <2 years of age with DS. To learn more and see if your child may be able to take part in this study, visit the study website at orchidstudy.com or find the study listing on clinicaltrials.gov (NCT06118255)
- PICCOLO: An Open-Label, Single-Arm, Phase 3 Study to Investigate the Safety and Effectiveness of cannabidiol (CBD oral solution) in Infants 2 Years of Age and Younger with DS. 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. For more information including study site locations and contact information, visit the Piccolo Study website.
In addition to these current opportunities, we anticipate even more coming in the end of 2024 and into 2025.
- Stoke Therapeutics is working towards a global Phase 3 study of their potentially disease-modifying anti-sense oligonucleotide therapy zorevunersen (STK-001) which they hope to begin next year following promising data from the Phase 1/2a and open-label extension studies in the US and UK, showing seizure reductions as well as early signals of positive impacts on developmental and cognitive domains following administration of zorevunersen..
- Longboard Pharmaceuticals is working towards Phase 3 studies for their experimental therapy bexicaserin (LP352) following promising Phase 2 and open-lable extension data for reductions of seizures in patients with developmental epilepsies while taking bexicaserin.
- Brightminds Biosciences recently announced plans for a Phase 2 study for their therapy BMB-101 in patients with drug-resistant epilepsies like DS.
- Bloom Science is working towards a Phase 2 study of their biotherapy BL-001 after positive Phase 1 safety studies.
Questions about participation in any of these studies? Email the DSF Scientific Director, Veronica Hood, PhD: veronica@dravetfoundation.org
