International SCN8A Alliance
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Mission Statement
Those living with SCN8A and their families are the heartbeat of our mission. Their resilience and hope inspire a network of support, uniting a global team of researchers, clinicians, epilepsy leadership groups, and pharmaceutical companies. Collaborating for a cure, we unite in our mission to advance the science of SCN8A, see improved outcomes and quality of life for everyone touched by SCN8A and other rare epilepsies.
About This Cause
- Goals - As we move into the future, our aim is unwavering: to be the lynchpin in SCN8A advancements, focusing predominantly on developmental epilepsies like DEEs. One significant outcome of this commitment is our groundbreaking SCN8A Diagnosis & Treatment Guidelines. We are committed to making these guidelines a global resource, equipping frontline clinicians in every language with the most current practices in the care of SCN8A disorders. SCN8A Family Meetings, featuring AI language translation, level the playing field by making interactions with top-tier researchers and clinicians universally accessible. This underscores our commitment to equity, ensuring that every family, regardless of their native language, has the opportunity to be well-informed and to be heard. Continued growth of AI translation and other inclusivity services are key to ensuring everyone with SCN8A receives the best care, regardless of geographic location. Fast-tracking clinical trials and new treatments is another core aim. To achieve this, we will leverage our partnership with 8-year longitudinal SCN8A registry data, a treasure trove of actionable insights and irreplaceable for its depth and scope. Our partnerships with global leaders and industry heavyweights are strategically aligned to bring about tangible, collective advancements in SCN8A science and patient care. In every initiative, our focus remains consistent: turn information into action, and hope into tangible outcomes. We strive to empower not just families dealing with SCN8A but also the professionals working alongside them. Through this multifaceted approach, we aim to accelerate the pace of discovery and treatment, enriching lives and influencing the entire SCN8A community globally. All these efforts in diagnosis, treatment, and inclusivity are critical to the day-to-day reality of SCN8A, but ultimately, they are building blocks on our path toward the ultimate goal: finding a cure for SCN8A gene mutations. Every guideline established, every family empowered, and every clinical trial launched moves us closer to this goal. Through unwavering collaboration with global researchers, clinicians, and industry partners, we will continue to push the boundaries of what's possible in SCN8A science. Our dedication to a cure isn't just an aspiration; it's a commitment that shapes our daily work and long-term strategy. - Strategy for Action - The International SCN8A Alliance operates at the intersection of medical research, patient advocacy, and technological innovation, squarely addressing the UN's 2030 Sustainable Development Goal of Good Health and Well-being. The Alliance has propelled the field forward by introducing the first-ever SCN8A Diagnostic & Treatment Guidelines. This groundbreaking framework is backed by a global panel of 30 pediatric epileptologists and a diverse set of parents, enabling best possible care globally, irrespective of geographical location. Our inclusivity is underlined by our AI language translation services, ensuring that our weekly Family Network Meetings and scientific data are accessible to anyone, regardless of language barriers. The translation of our treatment guidelines into multiple languages is our most resource-intensive yet essential initiative, underlining our commitment to universal access to information and care. We've built a global collaborative space through our SCN8A Global Leaders program, working closely with international SCN8A experts to accelerate research and care. In partnership with pharmaceutical companies, we also offer unwavering support for clinical trials. Our robust Registry, containing 8 years of longitudinal data, serves as a cornerstone for these clinical engagements, helping to fine-tune inclusion/exclusion criteria and aiding in site selection for trials. Moreover, our Research Consortium sustains quarterly dialogues between SCN8A researchers, catalyzing cooperation, and eradicating research silos. Our public webinars demystify complex scientific discussions for families, making cutting-edge research understandable and accessible. Unveiling new avenues for SCN8A understanding, Dr. Michael Hammer's caregiver-reported global registry has become a treasure trove of longitudinal data, illuminating best and worst treatments, genotype-phenotype correlations, developmental outcomes, and much more. The Alliance’s work is not confined to the SCN8A community alone. We're actively involved in broader rare disease and epilepsy advocacy efforts, ensuring that our impact echoes across other related disorders as well. In summary, the International SCN8A Alliance is a comprehensive, inclusive, and innovative initiative that aligns seamlessly with the goal of Good Health and Well-being. We remain committed to equitable access to quality care, transformative research, and a global community united against SCN8A-related disorders. - Expertise & Capacity- The International SCN8A Alliance is exceptionally positioned to realize its mission due to its comprehensive capabilities in scientific research, technological innovation, global collaboration, and patient advocacy. Scientific Research: Led by Dr. Michael Hammer, the Alliance holds a wealth of expertise in the SCN8A space. Dr. Hammer is a world-renowned geneticist who discovered that SCN8A causes epilepsy. His caregiver-reported global registry has become a pivotal source of longitudinal data, guiding treatment options and future research. Our Research Consortium bridges the gaps in the scientific community by fostering quarterly dialogues between SCN8A researchers. Technological Innovation: Our groundbreaking SCN8A Diagnostic & Treatment Guidelines have been enabled through a state-of-the-art online platform. Furthermore, our AI language translation services democratize access to our weekly Family Network Meetings and scientific data. This ensures that knowledge and community support are not limited by geographical or linguistic barriers. Global Collaboration: Our SCN8A Global Leaders program involves international SCN8A experts in a collective mission to accelerate research and care. This global reach is amplified through our strong partnerships with pharmaceutical companies, which are fundamental in launching clinical trials and moving the needle in treatment possibilities. Our vast Registry aids these clinical endeavors by providing critical data for refining clinical trial designs. Patient Advocacy: We put patients and their families at the forefront of all our initiatives. Our weekly SCN8A Family Network Meetings provide a real-time platform for them to interact directly with leading clinicians and researchers. These meetings are an essential component of our community-building efforts and have been vital in providing emotional and informational support. Resource Allocation: Our organization has successfully mobilized resources through active fundraising campaigns. We've developed compelling content across our digital channels to highlight the urgency and impact of our work, persuading both individual donors and institutional partners to invest in our initiatives. This has ensured sustainable funding for our expansive programs, from language translation to clinical trials. In summary, the International SCN8A Alliance's robust capabilities are not just multi-dimensional but also deeply interlinked, making us an effective and agile organization. We are well-equipped to meet our ambitious goals, driving forward both the scientific understanding of SCN8A and the well-being of affected families globally. - Accomplishments & Future Plans - The International SCN8A Alliance, along with DEE-P Connections and The Inchstone Project, represents a stronghold of education, research, and support for families facing the challenges of severe DEEs. In the past three years, DEE-P Connections alone has produced more than 70 webinars, covering urgent topics like hypotonia and growth attenuation. These initiatives have garnered substantial online traction, including high viewership rates on our YouTube channel. Our consolidated Resource Center is a monumental effort, assembling materials from over 40 partners. This digital repository offers an expansive collection of DEE-related webinars, research articles, videos, and other essential tools. Notably, in 2022 we introduced a multitude of new subjects, broadening the scope of information available to families, caregivers, and clinicians. The Inchstone Project is pushing the boundaries in research. With an interdisciplinary team and a strategically assembled steering committee, the project aims to improve outcome measures for those most impacted by DEEs. Our efforts were significantly strengthened by six global industry partnerships, providing essential funding and strategic guidance. We also launched a pilot study, in association with the FamilieSCN2A Foundation, collecting critical data to guide future research activities. In addition to our core programs, our steering committee and Industry Advisory Panel convened quarterly to evaluate strategies and directions. We also took an active role in shaping FDA guidelines through detailed feedback, focusing on the unique challenges that DEE families face. As for future goals, we intend to elevate our Resource Center to even greater heights, curating a broader array of topics and resources. On the research front, The Inchstone Project aims to leverage our steering committee's expertise, industry partnerships, and preliminary pilot study results to develop new research paradigms. Together, these initiatives demonstrate our steadfast commitment to an ecosystem of educational, research-based, and collaborative solutions for the global DEE community.