Families Driving KCNT1 Research and Clinical Progress
Empowering families to lead the way in KCNT1 research through participation, collaboration, and shared knowledge.
Two Ways You Can Drive the Science Forward
Want to Learn About Clinical Trials?
Discover what clinical trials are, how they work in rare diseases, and what it means to participate.
Ready to Participate in Research Now?
Start contributing through secure surveys, biospecimen donation, and medical record sharing.
Your Voice Isn’t Just Heard — It Leads
In rare diseases, families are the foundation of discovery. You notice patterns. You ask the hard questions. And when you speak up, we listen — and act.
When parents noticed unexplained symptoms in some children — like the development of pulmonary collateral arteries — we didn’t wait. We searched globally for experts, launched a working group, and are developing new clinical guidelines that will change care.
This is family-driven research in action.
Your lived experience is scientific evidence — and your advocacy drives solutions.
Participate in Observational Research
Register in Our Family Contact List
Help researchers track symptoms, development, and quality of life over time by participating in the KCNT1 International Registry. Sign up
Complete Health Surveys
Help researchers track symptoms, development, and quality of life over time by participating in the KCNT1 International Registry. Sign up coming soon!
Share Medical Records
U.S. families can consent to securely share medical records through our partner Citizen Health to build a unified data set. Create an account.
Donate a Biospecimen
Provide saliva, blood, or other samples that help researchers study the biology of your child’s condition. Complete interest form.
Explore Tissue or Brain Donation
Families can choose to donate postmortem tissue through our partnership with the Maryland Brain Bank — a lasting contribution to discovery. Learn more.
You don’t need have all the answers. You just need to share your experience.
Why Your Participation Is So Powerful
You are the first source of understanding
Your child’s journey helps define how the disease looks and evolves.
You help set research priorities
The questions families ask shape what gets studied.
You bring visibility to new symptoms
Shared experiences reveal patterns that no lab test could find.
Unlike common diseases, rare conditions like KCNT1-related disorders often lack large datasets or standardized care.
From Contribution to Impact
You take action
In whatever way feels right for your family
We guide and support you
Every step of the way
Your contribution fuels research
That informs studies, improves care, and drives treatments forward
You’re Already Part of the Story.
What Comes Next Is Up to You.
You’ve lived what most researchers have never seen. Your story can shape what comes next — not just for your child, but for families around the world.
