Patient Registry
The NR2F1 Patient Registry collects information on how BBSOAS affects a person over a lifetime to better understand the disease. The data collected from surveys helps researchers and families learn more about BBSOAS.
Being registered in Patient Registry also means as a community we are ‘research ready’ for clinical trials or pharmaceutical development.
NR2F1 Biorepository
Since 2023, we’ve partnered with COMBINEDBrain to collect BBSOAS bio samples (e.g. blood and urine), which can be used by researchers.
Our goal as a foundation is to collect as many BBSOAS samples from our community as possible. The more we collect, the better our chances to learn more about BBSOAS.
What is a biorepository?
A biorepository is a facility that collects, catalogs, and stores samples of biological material (e.g. blood samples) for laboratory research.
Why are biorepositories important?
The research and medical communities typically use samples from biorepositories for research studies. We want to make sure BBSOAS is represented in as many studies as possible and that means having samples from our community readily available. For a disorder like BBSOAS, there is potentially more variability than some other disorders due to the range of phenotypes and the genetic variants, so we need as many as possible.
I have previously participated in the biorepository, can I give another sample?
Yes! We need to refresh the supply. This is a consumed resource, so we need to periodically add more samples to replace those that were purchased for research.
Repeat samples from the same donors also create longitudinal samples. This allows a person to serve as their own ‘control’ for research.
Researchers can ask a question like ‘How does BBSOAS progress? What changes are happening over time?’ Or perhaps they're curious about what happens when someone who was having lots of seizures becomes seizure-free or vice versa.
‘Is there anything that predicts that a child who has not yet had any seizures is at risk of developing them soon?’ for instance. Basically, any question that requires more than just a single snapshot from a single donation.
Dates and locations
Over the past 3 years we have partnered with COMBINEDBrain to collect BBSOAS bio samples (e.g. blood) to be used for research projects.
Our goal as a foundation is to collect as many BBSOAS samples from our community as possible. The more we collect, the better our chances to learn more about BBSOAS. If you have donated a sample already, we are so grateful, but we still need your help! Repeat samples are so important! Through them, scientists can study the progress of BBSOAS.
We know families around the world want to participate. For now, we can only collect biorepository samples in the United States, but we’re working on this and will let you know once we have a solution to collect in other countries.
Denver, CO June 13th-14th
Orlando, FL June 18th-19th
Concord, NC June 24th-25th
Ann Arbor, MI June 26th-27th
Boston, MA June 27th-28th
Asheville, NC July 14th-15th
Bethesda, MD July 17th
Philadelphia, PA July 17th-18th
Boston, MA July 18th
Galveston, TX July 20th-21st
Boston, MA October 8th-9th
Philadelphia, PA October 9th-10th
Austin, TX November 7th
Houston, TX November 11
Denver, CO December 3rd-4th
Interested in attending a biorepository donation site?
Email us! Jennifer.Coughlin@nr2f1.org
Observer Reported Toileting Abilities Survey (ORTAS)
With our partners at COMBINEDBrain, we have the opportunity to better understand the BBSOAS and the skills associated with toilet training.
COMBINEDBrain is currently conducting a pilot study using the Observer Reported Toileting Abilities Survey (ORTAS).
What is it?
An online survey consisting of questions about a person’s diagnosis, symptoms, treatments, and ability to toilet independently, or not. All levels of ability are encouraged to participate.
Why is this study being done?
Toileting abilities are reported by families to be one of the most important aspects of daily living affected by neurodevelopmental disorders. This pilot study is for the purpose of testing a survey which will measure toileting abilities as an outcome measure.
Who can participate?
The study needs a total of 200 participants from anywhere in the world to be beta testers of the survey. They need:
Caregivers of a person (of any age) with BBSOAS
Adults with BBSOAS
The pilot is just available in English.
Ready to participate?
Great, just email ORTAS@combinedbrain.org and they’ll send you a link to complete the survey.
Drug Repurposing Observational Study
We are proud to launch our highly anticipated Drug Repurposing Observational Study—a major step forward in our mission to find treatments for individuals living with BBSOAS.
This groundbreaking study gives participants the opportunity to explore existing FDA- and European-approved medications that have already shown promise in improving symptoms associated with BBSOAS.
How This Study Became Possible
This work builds on pioneering research led by Dr. Chow at the University of Utah. Using an innovative approach, his team developed a method to test potential treatments for rare disorders using fruit fly models—a well-established tool in biomedical research.
Thanks to the incredible commitment and fundraising efforts of our BBSOAS community, this research was able to move forward at scale.
Over 1,600 existing drugs—already approved in the U.S. and Europe—were rapidly screened using these models. From this, more than 30 compounds demonstrated measurable improvement in the disease model. Through further validation and careful consideration of safety, accessibility, and relevance to our community, this list was refined to two promising candidate drugs.
What Participation Looks Like
Participants in this observational study will work with their own medical teams to select one of the identified medications. The study will track outcomes over time to better understand potential benefits and real-world impact.
By taking part, families are not only exploring potential improvements for their loved ones—but also contributing to critical data that can accelerate the path to validated treatments.
Why It Matters
This study represents a powerful shift—from understanding BBSOAS to actively testing potential treatments.
It is only possible because of this community.
Together, we are turning research into action—and moving closer to a future where effective treatments are within reach.
We will be launching soon—more information coming shortly. Stay tuned and keep a look out for updates.