Clinical Trials
and Research Opportunities
Research is the key!
Research is the key to unlocking future treatments and potential cures for SCN2A-related disorders. The FamilieSCN2A Foundation is a global leader in sponsoring and funding critical research projects that aim to increase understanding of the disorders and work toward patient-centered drug development goals.
The FamilieSCN2A Foundation focuses on critical research projects such as patient registries, natural history studies, and clinical trial readiness research. This research is essential to the drug development process, and all people with SCN2A-related disorders are encouraged to participate.
In addition to Foundation-sponsored research, FamilieSCN2A works closely with partner organizations to highlight research opportunities of interest to the SCN2A community, including clinical trials for experimental treatments.
The community is encouraged to review the research opportunities and reach out to the research team with any questions.
FamilieSCN2A Foundation Research Projects
The Dragonfly Study
Observational / Global Patient Registry for SCN2A-Related Disorders
Currently Enrolling
The FamilieSCN2A Foundation, in partnership with the National Organization for Rare Disorders (NORD), has launched the DRAGONFLY Study, a Patient Registry with global reach to study SCN2A-related disorders (SRDs). As a Patient Registry, the DRAGONFLY Study creates a platform for patients around the world to strengthen their voices and provide critical information about their experiences living with SRDs. Its purpose is to build an international resource to be used by researchers and clinicians to advance drug development and treatment options to help improve SCN2A-Related Disorder patient care.
The Butterfly Study
Survey of Bereaved Caregivers of Individuals with SCN2A-Related Disorders
Enrolling soon
The insights gathered through this study will help us better understand the circumstances surrounding SCN2A-related deaths and guide future efforts to strengthen care, support and resources for families.
Clinical Picture Maker
Observational / Video Documentation and Sharing
Supplement to Patient Registry and Natural History Studies
Currently Enrolling
The Clinical Picture Maker is an online platform which aims to facilitate the creation, organization, and dissemination of video documentation of rare diseases. The CPM includes the DAYTool, a web application which guides individuals with rare disorders and their families to record and upload videos demonstrating all different aspects of life with their rare disorder.
SCN2A Clinical Trial Readiness Study
Observational
Study Completed
The CTRS was a prospective study that collected data over a one year period to identify the most effective tools to measure changes in SCN2A patients. This type of data is important when developing treatments in order to demonstrate a treatment's effectiveness.
The Inchstone Project
Observational / Clinical Outcome Measures Study
Study Completed
The Inchstone Project is a multidisciplinary collaborative effort to develop precise outcome measures for those who rarely achieve traditionally measurable “milestones.” The goal is to have FDA approved measures that have been adapted to work for those severely impacted DEEs.
Non-Interventional Research Studies
Below is a non-exhaustive list of observational and non-interventional research studies run by external organizations which may be of interest to the SCN2A community. Please reach out to the research team to help answer any questions.
Simons Searchlight
Currently Enrolling
Simons Searchlight focuses on rare genetic conditions by collecting quality data and connecting researchers, families, and advocates. This helps improve understanding of your genetic condition for the community, scientists, and doctors. It was the first SCN2A registry and also acts as a natural history study for ongoing participants.
Citizen Health
Currently Enrolling
Citizen collects, organizes, and harmonizes clinical data from patient medical records to deliver a cost-effective natural history dataset without burdening patients with clinic visits.
Clinical Trials and Interventional Research Opportunities
Below is a non-exhaustive list of clinical trials and interventional research studies run by external organizations which may be of interest to the SCN2A community. The FamilieSCN2A Foundation is sharing for informational purposes only without explicit endorsement. Please reach out to the study sponsor for specific enrollment details. The FamilieSCN2A Foundation research team is also available to help answer any questions or guide families toward opportunities.