KCNQ2 Cure and Invitae/Ciitizen partner on new observational study

By Scotty Sims on February 24, 2022



The KCNQ2 Cure Alliance is excited to announce that we have partnered with Invitae Ciitizen to develop an Observational Study for patients affected by KCNQ2-DEE. Invitae Ciitizen has developed an innovative process to collect vital patient data that has already benefitted numerous rare disease and cancer communities. The Invitae Ciitizen platform allows data access for the benefit of the individual patient and their care team, as well as for the scientific community in its search for a cure.

With a simple registration process that requires as little as ten minutes, Invitae Ciitizen’s platform is able to pull a patient’s medical records from every institution where they have been seen, from birth through present. This allows a patient’s care team to access all of the individual’s medical records from a dashboard in a secure patient portal, and share the records with any medical professional they choose. The meaningful medical information is also extracted from the medical records and consolidated on a de-identified basis, which can then be used to better understand the impact of KCNQ2 mutations on patients affected by this mutation. This is critical information needed to develop effective treatments which address the needs of our patient community.

The data collected through this process is complementary to our ongoing KCNQ2 Natural History Study at Boston Children’s Hospital (which collects specific medical information and blood samples at a point in time), and the Natural History Survey that was conducted by Dr. Anne Berg at Northwestern Lurie Children’s Hospital (which surveyed parents/caregivers on the impact of KCNQ2-DEE on their children). The Invitae Ciitizen platform collects all medical records for a patient over their life, providing a longitudinal perspective on the impact of KCNQ2-DEE over time, and the areas of greatest medical need.

Enrollment in the Invitae Ciitizen Observational Study for KCNQ2 is now open. Any patient in the United States is eligible to participate in this initial cohort of participants. The main study may be able to be opened to other geographies in the future. Community members outside of the US will be able to participate in a parallel cohort called the Patient Insight Network (PINs) study. Check back as PINs will be enrolling in a few weeks.

For more information and to participate in the Invitae Ciitizen study, you may access our information page https://www.ciitizen.com/kcnq2/. We will also be hosting an informational webinar with the team from Invitae Ciitizen on March 3, at 9am PT/noon ET (registration information can be accessed HERE).

Scotty Sims

Prior to her career as a crisis therapist, where she provided support and assessment to children and adults with severe and persistent mental illness, Scotty was a forensic interviewer, specially trained to interview children who were victims of sexual abuse, for law enforcement, child protection, and the court system. After her daughter Harper was born and diagnosed with KCNQ2 encephalopathy, Scotty started an international KCNQ2 Support group to provide support for families struggling with a diagnosis of KCNQ2 developmental and epileptic encephalopathy.


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