Join the Patient Registry
In our Journey towards finding a cure, we have partnered with Simons VIP for Research studies and a BioRepository. Learn all about the Simons VIP and see how to participate in our research … and even meet the Simons VIP team members in this short new video.
We Reached Our Goal of 25 Families Providing Bio-Specimens in the STXBP1 Registry with Simons VIP Before SIFM
Researchers need an adequate pool of participants to make their studies statistically significant. We targeted to have 100 families enrolled in the Simons Registry with bio-specimens from 25 families by June. Thank you for helping us reach our goal before our SIFM conference on 6/21-22! We’ll be back with insights from this great participation after the conference.
May 2019 Registry Stats
102 families registered
67 Lab reports received
64 Families consented
37 Medical History Interviews complete
37 Bio-specimen samples collected from 11 families
Our goal is to collect natural history information for individuals identified with STXBP1 variants. Participating in a registry is an important method for increasing what we know about rare genetic conditions, and advocating for future treatments and therapies. Data shared through Simons VIP is made available to researchers across the world.
What is Simons VIP?
- Simons VIP (Variation in Individuals Project) is a study, funded by the Simons Foundation, that aims to collect natural history information for families with specific genetic changes that have a known association to neuro-developmental disorders, like seizures, developmental delay, and/or features of autism
- By collecting long term data about natural history, we can improve our understanding of genetic conditions, and ultimately contribute to future research. It’s important to share your child’s history so we can begin to understand the spectrum of features associated with different genetic diagnoses.
- Simons provides support by hosting a secure place to share your genetic, developmental, and medical information. Much of the data collected through Simons VIP is available to families through our website. Curated data sets are made available to interested researchers.
- Genetic and other subject matter experts are available to answer your questions through the “Ask an Expert” tool
- The first step is to indicate your interest in joining the research project and registry. Visit their website and click “Register.” Consent is completed online. If you have any questions, just call 855-329-5638 for help.
Register to participate at www.simonsvipconnect.org