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
Citizen Health
Digital Natural History Study- Citizen Health is a KCNQ2 digital natural history 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: Anyone whose medical records are in English.
- For US families the document upload is automated.
- For those outside of the US with records in English, you will have to upload your documents manually.
How to participate: Enroll online at Citizen Health
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 can participate.
How to Participate: Initial contact is via email or phone. You can find more details here 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:
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Philadelphia, PA, STXBP1 conference, July 19-21, 2024
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Philadelphia, PA, Myhre Syndrome conference, July 27-28, 2024
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Seattle, WA, HNRNPH2 conference, July 29-30, 2024
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PWS/USP7 conference (Atlanta, GA, September 26-27, 2024
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Kansas City, MO, COMBINEDBrain conference, September 29th, 2024
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Los Angeles, CA, SYNGAP, SLC6A1, Cure GABA-A Variants conference, December 4-5, 2024
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.
