COMBINEDBrain Biorepository

Currently enrolling participants

Principal investigator: ARRE Foundation in partnership with COMBINEDBrain

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 ARRE 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 ASXL-related disorders (Bohring-Opitz, Shashi-Pena, and Bainbridge-Ropers Syndromes)?

Here are the basics:

Who can participate?
Any participant diagnosed with an ASXL-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 Bonnie Sullivan, ARRE Foundation assistant, by email bonnie@arrefoundation.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!

Biorepository collection locations

U.S. Northeast

KAND
August 3-6
Queens, NY

COMBINEDBrain Meeting
October 15-16
Washington, DC

U.S. Midwest

IRF2BPL Foundation
September 22-23
Cincinnati, OH

KCNQ2 Cure Alliance
September 29-30
Chicago, IL

COMBINEDBrain Meeting
October 1
Minneapolis, MN

U.S. South

Yellow Brick Road Project
July 30-August 2
Jacksonville, FL

TBRS Foundation
October 12-14
San Antonio, TX

SYNGAP1 Research Fund & SLC6A1 Connect
December 1-3
Orlando, FL

U.S. West

USP7/Prader-Willi
October 5-7
Denver, CO

COMBINEDBrain Meeting
October 29
Seattle, WA

ADNP Kids Research Foundation
October 30-November 1
Los Angeles, CA