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CombinedBrain Biorepository Enrollment

Interested in participating in research?

CombinedBrain is traveling to a conference near you!

COMBINEDBrain Biorepository is enrolling Smith-Magenis Syndrome participants at conferences across the US and home collections are also available!

Principal investigator: PRISMS 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 PRISMS 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 Smith-Magenis syndrome disorders, (both deletion and mutation)?

Here are the basics:

Who can participate?
Any participant diagnosed with Smith-Magenis syndrome and 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 and home collection is also available. A phlebotomist will come to your home to take the collections.

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

How to enroll
Please contact ananyaterala@combinedbrain.org or info@prisms.org to determine the best way and location to participate.

Upcoming conferences if you are in the Orlando, FL region:

  • SLC6A1 Connect, Nov 30th (Orlando, FL)
  • SYNGAP1 Research Fund, Dec 1st (Orlando, FL)

And Home collections are also available!