Join the Simons VIP Patient Registry!
MARCH 10, 2019
Aaron J Harding, MS is a retired naval officer and clinical laboratory scientist professional who has a 13 year old son with SynGAP. Prior to joining the leadership of SRF, Aaron was on the board of another SynGAP organization and was a co-PI on a smaller registry.
Click here, join this registry!
Executive Summary: Recently, SynGAP Research Fund, Inc (SRF) connected with Simons Variation in Individuals Project — Simons VIP — to talk about what they are doing for our community, and we are excited to report back to you. There is a well funded, professionally run, world-class registry available to our community. All we have to do is join!
Good questions: What’s the catch? (There isn’t one) Are they going to sell our data? (Definitely not) How does this work? (You sign up, they do the rest). We asked all these questions. The reason for all this good news is that Simons VIP is a part of SFARI (Simons Foundation for Autism Research Initiative). SFARI’s mission is to improve the understanding, diagnosis and treatment of autism spectrum disorders by funding innovative research of the highest quality and relevance.
According to SFARI there are 1,036 genes associated with autism. SYNGAP1 is in the top 25 genes classified as “high-confidence.” Since SynGAP is highly related to ASD, SFARI is investing in a registry of SynGAPians to better understand our disease.
The following are five reasons why the Simons VIP SynGAP1 data registry stands to advance SynGAP1 patient and therapeutic research opportunities for years to come:
- It’s Fully Funded. Check out the Simons Foundation’s most recent annual report (2017) and head over to financials: $3.3 billion of assets. Which they are investing in brain research. (Thank goodness for Jim and Marilyn Simons, that’s all we can say.) But most importantly, you will never be asked to support this registry and they won’t ever try to monetize your data.
- They do lots of work — interviews & followups. SVIP has a genetic counselor on staff who calls you for the survey. Aside from being convenient, this makes for better data. Think about a few other Syngap parents, especially when first diagnosed and imagine how they might answer the same question differently. All that self-reported data in a registry isn’t always useful. Imagine instead if all those people were talking to a Genetic Counselor who could help to normalize their responses. That improves the quality of data and makes it available for researchers.
- They follow up, every year. SynGAP patients change considerably in a year. Being able to take a snapshot and follow their progression will be crucial for developing a better understanding of the disease. SVIP calls you every year and schedules an update call — with a salaried professional at no cost to you — to update the story on your patient. It’s remarkably convenient.
- Multiple Languages, More Data. Simons VIP stated in early 2019 that they’ll be introducing four languages — Dutch, French, German, and Spanish. This is important both because it will help this registry have a global data sample, but also because it demonstrates the commitment of SVIP. Doing surveys in five languages isn’t cheap.
- They do seizures too! Wait, Simons is doing this because they care about autism, but our kids have seizures, so will this be useful to researchers focusing on seizures? Yes. SVIP has heard this feedback and is incorporating a set of seizure questions to be of service to SynGAP and the many other autism-related mutations that come with epilepsy.
- SVIP connects Patients & Scientists. Simons VIP Connect will assist clinicians and researchers to contact families who are interested in research about studies that they may want to learn more about or consider joining. At all times however, patient privacy is a protected and no information is shared without the patients’ permission.
Interviews are powerful. If you haven’t read our article on SYNGAP1 encephalopathies by Vlaskamp, DRM, et al. (2018), don’t miss it. The paper was the result of a research team interviewing 57 patients and identified two novel types of seizures that are specific to SynGAP. And that was with just 57 interviews — imagine what researchers could learn if we all contributed to the SVIP registry and let them call us once a year to keep it current and develop data on our kids that spanned years.
Action Step: Go join SVIP! There is loads of information as well as the option to either register or request a phone call at the bottom. As a community, we are lucky to have such a valuable resource, and we ought to use it. Thank you.
Check out this presentation from Simons VIP last year, we skipped the intro and take you right to the good stuff!