Ciitizen Digital Natural History Study
A natural history study follows a group of people over time who have a specific disease, collecting health information in order to understand how the disease develops and changes and how to diagnose and treat it better.
KCNQ2 Rare Patient Network
Powered by INVITAE Ciitizen
The KCNQ2 Cure Alliance has joined the Rare Patient Network, powered by Invitae’s Ciitizen platform, a next-generation digital Natural History Study that organizes, summarizes, and stores patient medical record information obtained from multiple hospitals and providers.
Important information that can accelerate research is often trapped in medical records. As a patient or parent/guardian, you can unlock those records and contribute them to research in a private and secure way.
Ciitizen is a natural history study that uses medical records across multiple hospitals and providers where a participant has been seen, rather than patient/parent/caregiver reported data (like our Boston Children's study) to collect meaningful information on how KCNQ2 related disorders have affected a person’s life.
Insights from Parents
I gave them permission to pull her medical records which they will anonymize and make available to researchers studying KCNQ2. The really cool thing they're doing is using AI to quickly pull out the relevant data from digitized records so they can find trends, and match up which medications have had success and what symptoms different patients have had. By "crawling" through the data and keeping up with it over time, they'll essentially develop a longitudinal dataset for our small group of patients. I'm pretty excited about the research possibilities and only wish I'd signed up sooner.
How would signing up for Ciitizen benefit you right now? You would have access to your child’s medical records in one place. Many hospitals discard records after a while so this ensures you always have your child’s records. Plus, you can share documents for second opinions and consults (gut, sleep, pain, vision, etc.).
I have been holding on to years of medical records waiting for a chance to use them to help others and support research, bit did not know how.
We now have the opportunity to do so in a safe and anonymous way. Signing up was quick and easy and we have since used Ciitizen to share our son's records to get second opinions on his on going GI issues.
Learn more from rare disease mom and Ciitizen representative Virginie McNamar about the benefits of the Rare Patient Network to individual patients and families as well as the power to drive research progress through collecting, organizing, and analyzing the patient data contained in health records.
Participation is completely digital
Collects participants’ medical records from all institutions visited and organizes, digitizes, and summarizes them in a secure online account at no cost to you and under your full control
Having all medical records in one place helps you have a better understanding of your medical history and inform future decisions
Creates a comprehensive “Personalized Disease Summary” that enables quick access to key information and gives a detailed analysis of your KCNQ2 experience
Easily share your records and Personalized Disease Summary to collaborate with your medical team, seek second opinions, and coordinate with caregivers
With your consent, clinicians, researchers and biopharma can access anonymized data to aid in research
You can have a big impact on research with minimal effort
are the experts.
can help best tell the story of KCNQ2 related disorders.
Quick Start Guide
Use this easy reference to help you get started using your power to shape the future of KCNQ2 patients.
1. Documents you will need:
- Driver's license
- Your child's birth certificate OR guardianship/power of attorney (POA) if applicable
2. Get ready to enroll:
- You'll need 20 to 30 minutes to complete the sign-up
- You'll need a phone or a computer with a working camera
- You'll need an email address and will choose a password
3. Other information you'll need:
- Names of all doctors who have treated your child
- Names of medical institutions where your child has received care
*there's space to enter two in the initial setup process, but you can go back and enter as many as you would like once the account is set up
4. Clues for certain questions:
- What gene is affected?
- What is the primary diagnosis?
Answer: KCNQ2 developmental and epileptic encephalopathy or KCNQ2 self-limiting type
- Institute that diagnosed the condition?
Answer: Write the hospital that did the genetic testing that gave you the diagnosis
5. How it works:
- Create your patient's account
Click the ENROLL NOW button, then enter an email, name, and password.
- Ciitizen collects patient's health records for you
Once you add patient details, over the next 2-4 weeks, they will obtain the entire
Electronic Health Records (EHR) and add them to the patient’s Ciitizen account.
- Receive a personalized disease summary
Once Ciitizen has compiled, abstracted and normalized data from the patient’s
EHR, a summary is shared with the caregiver.
Reach out to the KCNQ2 Cure Alliance if you'd like to schedule one-to-one assistance
with the enrollment process or have questions
Ciitizen offers LIVE Patient Support Office Hours:
every Wednesday from 1:00 - 4:00 PM ET