Would you like your child or family member with SCN2A related disorders to participate in current research studies? A study might include an online survey or phone interview, past medical records or possible blood tests and other medical procedures.
The FamilieSCN2A Foundation believes research is our best hope for new treatments and eventually finding a cure for SCN2A associated disorders. Your family’s participation can help us reach these goals.
If you are interested in participating in research to help find treatments and a cure for SCN2A, please review the current research projects. These projects help get us closer to understanding this complex sodium ion channel disorder and closer to improving treatments and finding a cure. Participation is completely voluntary for anyone who has been diagnosed with a change in their SCN2A gene.
Simons VIP Connect is collaborating with Roche Pharmaceuticals to pilot an exciting research opportunity for families with SCN2A gene changes.
The purpose of this pilot study is to gather information about behavior and brain functioning in children and families with SCN2A gene changes and show that this study model works to collect useful information. We are seeking ten families to participate in this initial study. Depending on the outcome of this pilot study, we hope that this or other opportunities will be available to additional families in the future.
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The FamilieSCN2A Foundation is committed to funding and helping to catalyze efforts aimed at finding effective treatments to improve the lives of those with variants in the SCN2A gene. Therefore, we only work with other groups that share our same goals and values and align with our vision and mission to accomplish this.
We recognize the important role that for-profit biotech and pharmaceutical companies can play in this effort. Developing and testing new treatments (drugs, gene therapies, etc.) is extremely risky and expensive and requires substantial investment, often beyond the means of university labs.
With that being said, we feel strongly that all data about a family's medical history, genetic mutation, and all bio-specimens collected (DNA, cell lines, etc) should be held in 'pre-competitive' space, regardless of who paid to collect the data. In other words, these data and bio-specimens should be freely available to any qualified researcher. This practice helps to amass a large number of families with relevant medical information, which is critical to make progress on any rare disease. It is a strategy used by many other groups and strongly endorsed by the Simons VIP (and made possible by their data platform). This process ensures any researcher with a good idea will be able to design experiments and potentially develop treatments. The FamilieSCN2A Foundation and Simons VIP are committed for the long-term to make all de-identified data and samples available to the research community making it easier for more scientists to work to find treatments for families. We strongly believe this type of arrangement is in the best interest of families.
- Become familiar with your child's genetic change. Learn the terminology (e.g. Missense, Nonsense, Mosaic, DeNovo, Gain of Function, Loss of Function). We can help with this, you can read the publications, speak with a genetic counselor, watch some of the webinars we have on the website, etc.
- Collect your child's medical records and have them organized, preferably scanned or electronic copies. If you have participated in Simons VIP, they can assist you with this process.
- Know your patient rights. If it is not clearly stated on the signed consent form, ask questions about confidentiality and how the data will be used. Will it be returned to you or to SCN2A's central database, Simons VIP? (Did you know that you can request a sample of any bio-specimens, including iPSCs (stem cells) be returned and housed with Simons VIP so other researchers can utilize them?)
- If you are contacted to participate in research and you are unsure about the ethics involved or have not heard about the study through the FamilieSCN2A Foundation, please contact us at Research@SCN2A.org. We can help you determine the legitimacy of the research as well as ensure that all avenues to collaboration are open for the best interest of the community. https://clinicalcenter.nih.gov/…/…/legal/bill_of_rights.html