Research Opportunities
Simons Searchlight SETBP1 Registry
by Simons Searchlight
Our trusted research partner, Simons Searchlight, is an online international research program funded by the Simons Foundation Autism Research Initiative (SFARI). A long-standing platform for 14+ years, their primary focus is collecting natural history registry data from families with specific genetic changes associated with neurodevelopmental disorders, including autism, seizures, developmental delays, ADHD, and more.
Behavior & Characteristics study for individuals with SETBP1-HD or SETBP1-related disorders
by the SETBP1 Community Research Study (SCoReS) team
This study is phase 3 of the SETBP1 Community Research Study (SCoReS) project which is a collaborative study between Tarleton State University and SETBP1 Society!
Depending on the age of the individual, you will be asked to complete between 1-4 online surveys about your child/young adult with SETBP1-HD or related disorders for this phase. The surveys will focus on the behaviors and characteristics on the individual with SETBP1 haploinsufficiency disorder or SETBP1-related disorders.
SETBP1 Data Collection Program
by RARE-X
Our partner, RARE-X, is a research program of Global Genes, providing a collaborative platform for global data sharing and analysis to accelerate treatments for rare disorders.
A key highlight of the program is that patients maintain ownership of their de-identified data and have full control over who can access it and how it’s used. In essence, the program is owned by the patients, with RARE-X providing the necessary technology, data governance, consent support, and security to make it all work.
Brain Gene Registry
by 13 academic centers and hospitals around the US
The Brain Gene Registry is a NIH grant-funded research study led by Washington University – St Louis, Boston Children’s/Harvard, and University of North Carolina. Ten additional sites that are also part of The Eunice Kennedy Shriver Intellectual & Developmental Disabilities Research Centers (IDDRCs), located at universities and children’s hospitals throughout the United States have joined the initiative. Genes of interest have an underlying intellectual disability and/or autism, which includes SETBP1. While all can participate, it focuses on gathering information for variants of unknown significance (VUS). This is a one-time caregiver/patient-entered data collection research study.
It is a completely remote study that involves two virtual meetings: an initial consent/registration meeting and a telehealth appointment with the research coordinators. There will also be some additional surveys for the parents to complete. All of these assessments will help with reclassifying variants of uncertain significance to benign or pathogenic and collecting information to influence potential management and treatment options. If you are interested in enrolling, feel free to email or call me and we can set up a time to meet virtually!