Two family-led non-profit foundations are partnering to support Alliances between families and the broad stakeholder community to advance SCN8A treatments and a cure!
Serving you by:
- CONNECTING with a network of SCN8A families in your region and our own in-house geneticist/scientist/parent – Michael Hammer.
- SUPPORTING participation in the SCN8A Registry Research Study to increase scientific understanding of SCN8A.
- PARTNERING with SCN8A Clinicians to develop Standards of Care for our children and improve their quality of life.
- COLLABORATING with SCN8A Researchers and Drug Developers through a new SCN8A Global Research Consortium.
- Families Can Advance Research and Possible Cures by completing the Registry Research Study!
Families Can Advance Research and Possible Cures by completing the Registry!
Benefits of your participation in this Community SCN8A Registry and the Registry Research Study:
- PROMOTE early diagnosis.
- UNDERSTAND disease progression.
- CONTRAST your child’s condition to others with the same or similar variants.
- CAPTURE the factors related to the wide variability among our children.
- CHARACTERIZE critical outcomes of treatments and interventions.
- FACILITATE research and development of disease-altering treatments for our children.
- PUBLISHING RESULTS from the Registry to help better inform families, treating clinicians, researchers, and drug companies.
OUR PROMISE: YOUR DATA IS SAFE AND BEING USED TO FIND ANSWERS
Your privacy will always be respected.
Your data is shared only on a de-identified basis (cannot be linked back to you) with clinicians, researchers and drug developers.
You will receive frequent reports on emerging findings from the survey data.
Your data will be aggregated and integrated with other broader databases to help better understand rare pediatric epilepsies and learn from one another.
Progress of 2020 Registry Drive
Our Goal for 2020 drive 200 Submissions 117 Completed
76 started but need to be completed.
REMAINDER TO MEET GOAL:
83 completed submissions
Spotlight on 8A Data
NEW SCN8A REGIONAL FAMILY NETWORKS
The Shay Emma Hammer Research Foundation and Wishes for Elliott are partnering to support the development of a network of independent SCN8A Regional, Variant and Gene Function Networks. Participants share their journeys and their experience with SCN8A, as well as local resources to help us advance our understanding of the disease and paths toward better treatments. Dr. Hammer is an ongoing resource to families in the network to help expand understanding of each child’s specific mutation, what’s known about the mutation, and important unanswered questions the registry is beginning to address.
Families have already formed 10 regional networks across much of the US and bordering Canadian communities. We also shared a meeting with the recently formed family group in the U.K. New groups of families with related variants and in common functional regions of the SCN8A gene are now forming both to learn from each other and provide topics meriting further study by the research team, the clinician working group, as well as researchers. A group is also forming for Spanish speaking families.