About the study

COMBINEDBrain is a non-profit consortium of over 60 patient advocacy groups for rare, genetic neurodevelopmental disorders. They recognize the need to collect patient samples for researchers to identify biomarkers to be used to treat /develop treatments for our children. They are on a mission to collect ~500 samples from our member organizations over the next 6-8 months and The SCN2A Foundation is one of them. Samples collected from our community will be stored and available to researchers across the world.

Are you or one of your family members interested in participating in this exciting project for SCN2A-related disorders?

Here are the basics:

Who can participate?
Any participant diagnosed with an SCN2A-related disorder or unaffected sibling.  

What does participation involve?
COMBINEDBrain will be collecting urine samples and blood samples (processed for plasma and a finger stick) to be stored in the COMBINEDBrain 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 can you participate?
COMBINEDBrain is collecting samples all across the United States this year. Please see the list below of locations to find the closest biorepository collection to you. You may attend ANY of these meetings

Sample size: Our goal is to collect 20 samples from each patient group

How to enroll
Please contact us by email info@scn2afoundation.org to further determine eligibility and the best way and location to participate.

Use of Clinical Research ID (CRID)

This study uses a CRID, or Clinical Research ID. This is a unique identification number generated and known only to the participant. This ID number allows researchers to merge data across research projects without any personally identifying information from the participant. Please obtain a CRID prior to enrolling in this study, which is a simple online process that takes 2-3 minutes. Thank you for helping us improve data sharing in ASXL research!

Current Roadshow Locations

KDVS Foundation, (July 20th-21st 2023; Renaissance Orlando at SeaWorld 6677 Sea Harbor Drive, Orlando, Florida, USA, 32821)

STXBP1 Foundation, (July 22nd-23rd 2023; 10600 Westminster Blvd, Westminster, CO 80020)

Yellow Brick Road Project, (July 31st-August 1st (Ponte Vedra Lodge & Club, 607 Ponte Vedra Blvd, Ponte Vedra Beach, FL, 32082)

COMBINEDBrain, August 6th 2023 (Queens, NY)

IRF2BPL Foundation, Sept 22nd-23rd 2023 (Cincinnati, OH)

KCNQ2 Cure Alliance Conference, Sept 29th-30th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611)

Prader-Willi Syndrome/USP7 Foundation, October 5-7 (1672 Lawrence St, Denver, CO 80202) 

TBRS Community, Oct 12th-14th 2023 (Morgan’s Wonderland, 5223 David Edwards Dr, San Antonio, TX 78233)

COMBINEDBrain Meeting, Oct 16th 2023 (Washington DC)

ADNP Syndrome, Oct 30th-Nov 1st 2023 (Los Angeles, CA)

SYNGAP1 Research Fund, Dec 1st-3rd 2023 (8978 International Drive Orlando, FL, 32819)

SLC6A1 Connect, Dec 1st-3rd 2023 (9700 International Dr, Orlando, FL 32819)

**Subject to change. For most updated locations and details on times of collections, please contact: biorepository@combinedbrain.org

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