FRAXA Research Foundation is now a partner in the COMBINEDBrain consortium, a non-profit organization comprising over 60 patient advocacy groups focused on rare genetic neurodevelopmental disorders. Through this collaboration, we will assist in developing new Fragile X syndrome biomarkers. By contributing samples and participating in this project, you help researchers worldwide better understand Fragile X and develop effective treatments.
COMBINEDBrain's Mission and Impact
The Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders (COMBINED) is committed to accelerating clinical treatments for people with rare genetic neurodevelopmental disorders. They achieve this by pooling efforts, studies, and data from their member organizations.
Currently, COMBINEDBrain is on a mission to collect approximately 500 samples from member organizations before the year ends. These samples will be stored and made available to researchers worldwide, fostering collaboration and facilitating the discovery of new treatments.
Participate in Fragile X Syndrome Biomarker Research
If you or a family member is interested in participating in this groundbreaking project for Fragile X syndrome, here's what you need to know:
Any participant diagnosed with Fragile X syndrome. We also need a handful of sibling and parent controls.
COMBINEDBrain will collect blood samples (processed for plasma and a finger stick) to be stored in the COMBINEDBrain Biorepository. These samples will be available for select biomarker projects and other interested researchers.
COMBINEDBrain is collecting samples across the country this year. Please refer to the list of locations below to find the closest biorepository collection site to you. A blood draw location will be set up at each site. Conference attendance is not required.
The goal is to include at least 20 individuals with Fragile X syndrome.
There is no cost involved for eligible participants in this research study.
To get involved, please contact Katie Clapp at kclapp@fraxa.org. Thank you in advance!
Biorepository Collection Sites
- August 26, 2023, GLUT1 Deficiency (Indianapolis, IN)
- Potential: September 19-20, 2023, Global Genes (San Diego, CA)
- September 22-23, 2023, IRF2BPL Foundation (Cincinnati, OH)
- September 29-30, 2023, KCNQ2 Cure Alliance Conference (Chicago, IL)
- October 5-7, 2023, Prader-Willi Syndrome/USP7 Foundation (Denver, CO)
- October 11-14, 2023, TBRS Foundation (San Antonio, TX)
- October 15-16, 2023, COMBINEDBrain Meeting (Washington DC)
- October 30-November 1, 2023, ADNP Syndrome (Los Angeles, CA)
- Potential: November 2023, FAST Angelman (Orlando, FL)
- December 1-3, 2023, SYNGAP1 Research Fund (Orlando, FL)
- December 1-3, 2023, SLC6A1 Connect (Orlando, FL)
