The Cute Syndrome Foundation and the National Organization for Rare Disorders today launched a survey series to better understand patients with SCN8A mutations that cause epilepsy, movement disorders, behavioral challenges, and other medical complexities. SCN8A has been diagnosed in approximately 400 patients worldwide.
The new study, The Cute Syndrome Foundation Global SCN8A Survey Series, creates a platform for patients around the world to share information about life with SCN8A. Its purpose is to build an international resource to be used to nimbly and collaboratively collect data to aid in improving the quality of clinical care, supporting research areas, and facilitating drug development.
“Over the years we have seen clinically and scientifically valuable information arise from caregiver knowledge within our community.” Said Hillary Savoie, PhD, Founder and President of The Cute Syndrome Foundation. “We want to expedite the process of getting that data into the hands of partners who can directly improve the lives of our children.”
To help drive awareness and participation, The Cute Syndrome Foundation will utilize social media, The Cute Syndrome Foundation’s website, and other modes of outreach, to engage with and encourage participation from the patient community.
“Our goal is to enroll as many patients as possible,” said Shelley Frappier of The Cute Syndrome Foundation. “Our community has proven to incredibly motivated to share their information, when they know that the data is being used in actionable ways to improve clinical care and the development of future treatments.”
The Cute Syndrome Foundation Global SCN8A Survey Series consists of electronic surveys to collect information about the patient and caregiver experience and disease characteristics. Patient caregivers or guardians can enter information from anywhere in the world. The data is made anonymous and stored securely in an online database. The Cute Syndrome Foundation may share the data with individuals or institutions conducting research or clinical trials, as approved by the study’s governing board.
The Cute Syndrome Foundation is launching the study in collaboration with the National Organization for Rare Disorders (NORD), an independent charity that built its natural history study platform as part of its mission to help identify and treat all 7,000 rare diseases. The Cute Syndrome Foundation is a member of NORD and the organizations work together to eliminate the challenges that rare disease patients face.
“Patient-powered registries are changing the landscape of rare disease research,” said Vanessa Boulanger, NORD’s Director of Research Programs. “By building strong partnerships within the community and with leading scientific experts, NORD’s Registry Program is well-positioned to address knowledge gaps and accelerate the development of discoveries that save lives. We are so pleased to welcome The Cute Syndrome Foundation, as a partner in our IAMRARETM Registry Community!”
SCN8A mutations are rare genetic disorder that has been identified in approximately 400 patients worldwide. In their daily lives, individuals with SCN8A mutations can face a number of challenges that threaten their well-being and safety. Some children have serious developmental limitations such as a lack of head control, no language development, and feeding challenges requiring feeding tubes. While a number of children with SCN8A do walk, they typically have delays resulting from hypotonia, and can struggle with ataxia. Additionally, many of them also face behavioral and sensory challenges, which may arise from the high doses of anti-convulsants. They also struggle with repeat infections, respiratory challenges, movement disorders, and a number of other health risks—including early death.
For more information, visit https://tcsfsurveys.iamrare.org/
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About The Cute Syndrome Foundation
The Cute Syndrome Foundation (TCSF), https://www.thecutesyndrome.com is a volunteer caregiver-led organization focused on SCN8A mutations. TSCF has registered 296 families of the presumed 400 individuals who have been diagnosed with SCN8A. We fund scientific research on SCN8A, work with stakeholders to improve health outcomes for individuals with SCN8A, and engage families who are affected by this disorder. We educate about standard treatments for SCN8A. We collaborate with the SCN8A community, other foundations, clinicians, industry partners, and scientific researchers to expand scientific understanding and increase public knowledge of SCN8A mutations.
Media Contact:
Hillary Savoie, PhD, hillary@thecutesyndrome.com
About National Organization for Rare Disorders (NORD)
The National Organization for Rare Disorders (NORD®) is the leading independent advocacy organization representing the approximately 25-30 million Americans affected by a rare disease. NORD is committed to the identification, treatment and cure of the more than 7,000 rare diseases, of which approximately 90 percent are still without an FDA-approved treatment or therapy.
NORD began as a small group of patient advocates that formed a coalition to unify and mobilize support to pass the Orphan Drug Act of 1983. For more than 37 years, NORD has led the way in voicing the needs of the rare disease community, driving supportive policies and education, advancing medical research and providing patient and family services for those who need them most. NORD is made strong together with over 325 disease-specific member organizations and their communities and collaborates with many other organizations on specific causes of importance to the rare disease community.
Media Contact:
Lesli Nordstrom, lnordstrom@rarediseases.org