Ciitizen, a healthcare technology company that helps patients get full control of their medical records to access better treatment options, including participation in research and clinical trials, today announced its partnership with The Cute Syndrome Foundation, Shay Emma Hammer Research Foundation and Wishes for Elliott.
These partnerships enable the collection of medical records and images for patients affected by SCN8A-related disorders. Patients and their caregivers immediately benefit by having all their medical information captured in one location, which they own. Ciitizen then uses its machine learning pipeline and expert human review to normalize these unstructured patient health records into a research-ready dataset that is accessible and queryable.
“We are so excited about this collaboration between Ciitizen and these leading advocacy groups focused on finding treatments for SCN8A-related disorders,” said Nasha Fitter, director of rare and neurological diseases at Ciitizen. “Ciitizen is an open platform where all medical providers and researchers can access rich, longitudinal, consented patient data. This is critical for rare disease groups to find clinical endpoints, conduct genotype/phenotype analysis, and better understand their diseases.”
Caregivers of SCN8A affected patients can enroll starting today at: https://ciitizen.com/scn8a.
Hillary Savoie, founder and director of Cute Syndrome Foundation said, “Ciitizen helps our families put their existing medical data to work for our community. I am excited to see the wealth of data coming from this partnership as it is applied to various studies occurring at biopharma companies and research institutions.”
Ciitizen will further work with SCN8A registry platforms in the space, where identifiers from consenting patients can be shared, enabling data sets of information to be connected. This is a critical step towards breaking down the silos of data being stored across various platforms and allows researchers to get deeper, richer, longitudinal data on rare disease patients.
“As a researcher, one of the biggest hurdles is not just the lack of data access, but access to the right kind of data that includes clinical notes and imaging results. Combining insights from our registry platforms with the data processing power of Ciitizen will create a reinvigorated approach to finding a cure for SCN8A-related disorders,” said Dr. Michael Hammer, lead scientist at the University of Arizona Hammer Lab and founder of the Shay Emma Hammer Research Foundation which houses the longitudinal SCN8A Registry.
“This partnership is exciting because it allows families to gain access to and control their child’s medical records. There is also great value in matching clinical data with caregiver reported data in the longitudinal Hammer SCN8A registry. This data can then be analyzed by our extensive team of clinicians, researchers, and families to accelerate progress towards the understanding of this devastating disorder and potential treatments,” said Gabi Conecker, Founder of Wishes for Elliott.
About Ciitizen
Ciitizen is a leading consumer health technology company whose mission is to help patients get full control of their medical records to access and find better treatment options including participation in research and finding clinical trials. As a patient-directed care platform, Ciitizen believes patients should have full control of directing the use of their data, which serves as one of the richest sources of real-world evidence, unlocking new options for patients and the community. For more information, contact research@ciitizen.com and visit http://ciitizen.com/research
About The Cute Syndrome Foundation
The Cute Syndrome Foundation (TCSF) is a caregiver-led organization focused on SCN8A, a devastating rare genetic disorder that causes severe early-onset epilepsy, developmental delay and/or regression, and other cognitive, motor, and behavioral impairments. TCSF funds scientific research on SCN8A mutations, works with stakeholders to improve health outcomes for individuals with SCN8A mutations, and engages families around the world who are affected by this disorder. With a team of 30 volunteers, TCSF supports the families and individuals who are affected by this disorder and works with families and clinicians to improve standard treatments for SCN8A. TCSF collaborates with the SCN8A community, other foundations, clinicians, industry partners, and scientific researchers to expand scientific understanding and increase public knowledge of SCN8A mutations and other rare pediatric epilepsies. For more information visit www.thecutesyndrome.com
About The Shay Emma Hammer Foundation
The Shay Emma Hammer Research Foundation (SEHRF) is a 501(c)(3) non-profit organization founded by Dr. Michael Hammer, who first discovered the SCN8A gene as pathogenic for epilepsy in humans. Sadly, this discovery came after the death of his daughter, Shay. Dr. Hammer has since dedicated his life to helping SCN8A families better understand genetics and improving the quality of life of those affected by SCN8A-related epilepsy and other childhood brain disorders. SEHRF is home to the 5-year old longitudinal SCN8A registry from which many collaborations and publications have emerged. To learn more about the SCN8A Registry and their work with diverse stakeholders including clinicians, researchers and Wishes for Elliott, please visit us at www.scn8a.net
About Wishes for Elliott Foundation
Wishes for Elliott, a 501(c)(3), was founded in 2014 and is dedicated to finding answers and hope for all children and families impacted by SCN8A-related epilepsy. We are committed to advancing the science of SCN8A in partnership with families, researchers and clinicians around the world. We harness the power of collaboration by bringing together a wide range of stakeholders to meet each other and accelerate understanding of SCN8A. In collaboration with SEHRF, we are building on the success of the longitudinal SCN8A Registry, educating, supporting, and learning with families, bringing clinicians together to develop the first standards of care for SCN8A, and hosting joint lab meetings to enhance scientific collaborations and aid in accelerating progress towards effective treatments. Wishes for Elliott also provides support to families of children with developmental and epileptic encephalopathies via our collaborative project, DEE-P Connections. To learn more or contact us, please visit www.wishesforelliott.com and www.deepconnections.net
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