Biorepository for STXBP1

The STXBP1 Foundation has established a biorepository in partnership with COMBINEDBrain, a research organization supporting multiple rare neurodevelopmental conditions. Families can provide biosamples, which are important tools for researchers to advance STXBP1 research.

Why is this important?

We are collecting samples to support development of therapies and identification of biomarkers. Blood samples and iPSC cell lines are available to STXBP1 researchers globally. Every sample brings us one step closer to breakthroughs in treatment and care for our kids!

How to get involved

  • Who:  Any participant diagnosed with one of the disorders from the COMBINEDBrain consortium, like STXBP1, or unaffected sibling

  • What: COMBINEDBrain will be collecting urine samples and blood samples (processed for plasma and a finger stick) to be stored in a CB Biorepository and available for select biomarker projects as well as other interested researchers. They will also collect several online surveys to be completed by caregivers. 

  • Where: COMBINEDBrain is collecting samples all across the country this year. Please see attached list of locations to find the closest biorepository collection to you. You may attend ANY of these meetings. If you are unable to attend a conference, but are still interested in participating please reach out to the STXBP1 Foundation at research@stxbp1disorders.org.

  • How: Contact the STXBP1 Foundation at research@stxbp1disorders.org to further determine eligibility and the best way and location to participate.  

2025 Meetings for biorepository sample collection

  • Hereditary Neuropathy Foundation: Nashville, TN; April 24-25, 2025

  • Coalition to Cure CHD2: Westminster, CO; June 14-15, 2025

  • United Mitochondrial Disease Foundation: St. Louis, MO; June 18-21, 2025

  • Prader Willi Syndrome: Phoenix, AZ; June 27-28, 2025

  • Med13L Foundation, CTNNB1 Connect & Cure: Boston, MA; July 10-12, 2025

  • CSNK2A1 Foundation: Denver, CO; July 18-19, 2025

  • STXBP1 Foundation: Westminster, CO; July 19-20, 2025

  • The Stiff Person Syndrome Research Foundation: Windsor Locks, CT; July 19-20, 2025

Providing samples at Home
If you are unable to attend any of these locations to provide samples in-person, home collections using a mobile phlebotomist are available in certain areas of the US. Contact research@stxbp1disorders.org to see if that is an option where you live.