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

KCNQ2 Natural History Study

What: 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.
Where: 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: Click here

kcnq2 natural history study

Xenon Pharmaceuticals

CLINICAL TRIAL - Xenon is currently developing XEN496 (active ingredient ezogabine), a Kv7 potassium channel modulator, for the treatment of KCNQ2 epilepsy. Ezogabine was previously approved by the U.S. Food and Drug Administration (FDA), as an anti-epileptic drug (AED) as an adjunctive treatment for adults with focal seizures with or without secondary generalization. Xenon received orphan drug designation (ODD) from the FDA for XEN496 as a treatment of KCNQ2-EE.

Xenon’s plan to start its clinical trial during the 2nd half of 2019 is on track. The primary endpoint of this trial will be seizure control and will use Xenon’s pediatric friendly formulation. As part of their initial plan, Xenon expects to enroll approximately 20 eligible patients, which may include patients as young as 4 weeks. There may be opportunities for patients who don’t qualify for the trial to receive compassionate access. The trial will be initiated in the U.S., with the expectation it will open clinical trial sites in some European countries. As the program reaches important milestones, Xenon will notify the KCNQ2 Cure Alliance who will make the information available via the parent group and website. Please email us at info@kcnq2cure.org and title your email CLINICAL TRIAL if you would like to be connected/considered for the clinical trial. Your information will not be shared with the company without your consent.

KCNQ2 Sleep Study

What: Complete a questionnaire about your family member regarding their sleep to understand the nature of sleep problems in those with a change in the KCNQ2 gene.
Where: University of Melbourne in Australia
Who Can Participate: Anyone who has a child/adult affected by a change in the KCNQ2 gene is able to participate.
Why participate: Many children with KCNQ2 appear to struggle with consistently sleeping through the night, but to date, there has not been rigorous scientific research that describes the variety of sleep challenges that affect children with KCNQ2. This study will be the first of its kind to provide a mapping of the sleep experience of children with KCNQ2.
How to Participate: Click here

Early Life Epilepsy Study

What: The goal is for this 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.
Where: Lurie 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: Click here

early_life

RIKEE Database

What: The RIKEE database is designed to provide information about specific KCNQ2/3 variants to families, researchers, and the general public. It is accessible to an international team of researchers working on KCNQ2/3 related illness.
Where: Baylor College of Medicine
Who Can Participate: Anyone with a change in the KCNQ2 or KCNQ3 gene. This includes de novo, benign familial, deletions, duplications, and gain or loss of function. Both families and clinicians can apply to have a variant listed.
How to Participate: Visit RIKEE.org

RIKEE logo

Other KCNQ2 Research

Knopp Biosciences

KCNQ2 PRECLINICAL PROGRAM - Knopp has reached the lead optimization stage of identifying novel selective modulators of a voltage-gated potassium channel family known as KCNQ2, building on the significant experience of its scientific leadership in characterizing and exploiting the pharmacology of this target. The KCNQ2 program provides the opportunity to secure composition-of-matter patent positions for development candidates. Knopp chemists have synthesized a library of novel compounds that modulate ion channel activity relevant in indications of persistent unmet need related to neuronal excitability.

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.