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 recruiting page.
We encourage all patients enrolled in research to create a CRID (Clinical Research ID.) This is a free service that allows you to take control of your own data. By sharing your CRID, researchers can then reuse, merge and share your research data without using your PII (Personal Identifiable Information) or PHI (Personal Health Information). For more information, read this recent publication.
To create your CRID today visit https://thecrid.org. It takes 5 minutes!
Research Activites Currently Recruiting
Invitae/Ciitizen
Digital Natural History 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.
What is involved: One-time form to complete
Language: English
Who can participate: Records need to be in English. Easiest for those in the USA
How to participate: Enroll here https://ciitizen.com/kcnq2
The Poduri Lab
Natural History Study: Participation includes reviewing consent materials with a member of the study staff, providing access to existing medical records, and completing a medical/ developmental history questionnaire. All enrollment and participation steps can be completed remotely and do not require visits to Boston Children’s Hospital.
What is involved: A series of surveys
Language: English
Who Can Participate: Global. Anyone who has a child/adult affected by a change in the KCNQ2 gene is able to participate.
How to Participate: https://www.kcnq2cure.org/natural-history-study/
Specimen biorepository
Biorepositories and biobanks store biological specimens such as blood, saliva, plasma, urine, tissue, or spinal fluid from patients and make them available for use in research to help improve understanding of the underlying disease mechanisms and accelerate the development of new therapies.
KCNQ2 Cure Alliance participates in a biorepository to help make patients' biosamples more easily available to researchers. This is another powerful way to help drive progress and provide the resources and tools scientists need to understand our disease better and develop and test treatments.
COMBINEDBrain Biorepository
Focus: peripheral blood mononuclear cells (PBMCs); induced pluripotent stem cells (iPSCs); urine
What's involved? blood draw and/or urine collection
Languages: English and Spanish
Who can participate? anyone in the USA
Who has access? researchers and industry looking to study KCNQ2 can get de-identified samples
Interested in participating in research?
COMBINEDBrain is traveling to a conference near you!
COMBINEDBrain has created a Biorepository Roadshow to allow participating organizations to collaborate during our individual family conferences to provide opportunities for any of the COMBINEDBrain rare diseases represented to invite families to come do sample donations.
Who: Any participant diagnosed with a neurodevelopment disorder (we also need some sibling controls).
What: COMBINEDBrain will be collecting blood samples (processed for plasma and a finger stick). You will need to have confirmation of diagnosis available (genetic report).
Cost: Plasma samples and finger sticks are free!
How: To get involved, please contact Scotty Sims at scotty@kcnq2cure.org.
Biorepository Collection Sites:
- June 22-24, 2023, CTNNB1 (Madison, NJ)
- June 23-25, 2023, DYRK1A Foundation (Bethesda, MD)
- July 19-21, 2023, KDVS Foundation (Orlando, FL)
- July 21-23, 2023, STXBP1 Foundation (Westminster, CO)
- July 30-August 2, 2023, Yellow Brick Road Project
(Jacksonville, FL) - Potential: August 3-6, 2023, KAND (Queens, NY)
- Potential: September 19-20, 2023, Global Genes (San Diego, CA)
- September 22-23, 2023, IRF2BPL Foundation (Cincinnati, OH)
- September 29-30, 2023, KCNQ2 Cure Alliance Conference (Chicago, IL)
- October 5-7, 2023, Prader-Willi Syndrome/USP7 Foundation (Denver, CO)
- October 12-15, 2023, TBRS Foundation (San Antonio, TX)
- October 15-16, 2023, COMBINEDBrain Meeting (Washington DC)
- October 30-November 1, 2023, ADNP Syndrome (Los Angeles, CA)
- Potential: November 2023, FAST Angelman (Orlando, FL)
- December 1-3, 2023, SYNGAP1 Research Fund (Orlando, FL)
- December 1-3, 2023, SLC6A1 Connect (Orlando, FL)
Early Life Epilepsy Study
The goal of this study is to help parents of newly diagnosed children understand what to expect, improve treatment and care from epileptologists and other providers, and support the development of personalized clinical trials in the future. This study is now closed.
