Participate in Research
KCNQ2 Research Opportunities
KCNQ2 Cure Alliance works independently and with a variety of stakeholders to support research into the experiences, goals, opportunities, and challenges of our community.
These additional research opportunities include interviews, surveys, experiments, and other activities. For example, if you choose to take part in one or more of these research activities, you might:
- Participate in studies that explore different aspects of living with KCNQ2, including nutrition, breathing, or mobility.
- Offer your opinions and experiences to key decision makers, to help shape current and future development of treatments.
- Share your goals and priorities to help improve the standard of care for KCNQ2.
Below is a list of research activities currently recruiting new participants. Please note that this page does not include clinical trials that are currently recruiting participants. For that, please see our clinical trials currently recruiting page.
Research Activites Currently Recruiting
Xenon Pharmaceuticals
CLINICAL TRIAL - Xenon is currently developing XEN496, which is a proprietary pediatric formulation of the active ingredient ezogabine, for the treatment of KCNQ2 developmental and epileptic encephalopathy (KCNQ2-DEE). Ezogabine was previously approved by the U.S. Food and Drug Administration (FDA), as an anti-epileptic drug as an adjunctive treatment for adults with focal seizures with or without secondary generalization. Xenon has received Fast Track designation and Orphan Drug Designation for XEN496 for the treatment of seizures associated with KCNQ2-DEE from the FDA, as well as orphan medicinal product designation from the European Commission.
A Phase 3 randomized, double-blind, placebo-controlled, parallel-group, multicenter clinical trial, called the “EPIK” study, is now underway to evaluate the efficacy, safety, and tolerability of XEN496 administered as adjunctive treatment in approximately 40 pediatric patients aged one month to less than 6 years with KCNQ2-DEE. Dr. John Millichap is the Principal Investigator of the EPIK Study. The KCNQ2 Cure Alliance hosted a webinar on March 29, 2021, with Dr. Millichap to learn more about the EPIK clinical trial. A replay of the webinar can be found here. For more information about the EPIK study, please visit the clinical trial website or email Lauren DeRienzo.
This clinical trial is registered with the US Government.
To learn more, please visit the EPIK website https://epikstudy.com/ or http://www.clinicaltrials.gov
Invitae/Ciitizen
OBSERVATIONAL STUDY- Ciitizen is a KCNQ2 observational study that uses medical records to collect meaningful information on how a mutation in the KCNQ2 gene has affected a person’s life and it includes medical record information across multiple hospitals and providers where a participant has been seen.
Important information that can accelerate research is often trapped in medical records. As a result, drug researchers can’t access the information they need to advance treatments. But, as a patient, you can unlock your records and contribute them to research in a private and secure way.
This will be a global study; however, a current limitation is medical records need to be in English as medical record review services in other languages are not yet offered. International families with English medical records are being accepted, with additional languages supported in the future.
In addition to giving researchers access to cumulative data on medications, tests, labs, and medical notations, all participants will have access to their own information and can even download it to keep for their own records or share with any new providers they may see in the future.
The information gathered from health records can be used to further research and find better treatments for the KCNQ2 community by sharing anonymized data with researchers, clinicians, and pharmaceutical companies. Academic researchers will have free access (with IRB approval), while industry and pharmaceutical partners will pay a fee. KCNQ2 Cure Alliance will receive a portion of this fee, which we will invest in further research on KCNQ2.
To learn more or to participate in the KCNQ2 Ciitizen study visit https://ciitizen.com/kcnq2
Read this blog HOW MY DAUGHTER'S MEDICAL HISTORY IS A TOOL TOWARDS A CURE
KCNQ2 Ciitizen Webinar
Boston Children's Hospital
KCNQ2 Natural History Study: Participation includes reviewing consent materials with a member of the study staff, providing access to existing medical records, and completion of a medical/developmental history questionnaire. All enrollment and participation steps can be completed remotely and do not require visits to Boston Children’s Hospital.
Who Can Participate: Anyone who has a child/adult affected by a change in the KCNQ2 gene is able to participate.
How to Participate: To learn more about the KCNQ2 Natureal History Study and to enroll go to https://www.kcnq2cure.org/natural-history-study/
Other KCNQ2 Research
Center Without Walls (CWoW)
Northwestern University has been awarded a $12 million, five-year grant from the National Institutes of Health (NIH) to establish an interdisciplinary research center dedicated to advancing the genetic understanding of epilepsy.
The Channelopathy-Associated Epilepsy Research Center, led by Alfred George, Jr., MD, chair and Magerstadt Professor of Pharmacology, will focus on investigating sodium and potassium channel genes, the dominant class of genes responsible for early childhood-onset epilepsy. The center will be made up of a collaborative group of investigators at five academic medical centers, including Northwestern University, three free-standing research hospitals, and two industry partners.
Early Life Epilepsy Study
The goal for this study is to help parents of newly diagnosed children understand what to expect, improve treatment and care from epileptologists and other providers, and to support the development of personalized clinical trials in the future.
