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
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.
April 9-10 2026, Orlando FL at the 2026 Family & Scientific Conference
More 2026 dates will be published soon
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.