The Drug Repurposing Observational Study is the next step in our search for treatments for BBSOAS. It follows families who choose, with their own doctor, to try one of two existing medications, and tracks how symptoms change over time.
Where the drugs came from. With a grant from the NR2F1 Foundation, Dr. Clement Chow and his team at the University of Utah screened more than 1,600 medications already approved in the U.S. and Europe. Over 30 compounds improved symptoms in fruit fly models of BBSOAS. After weighing safety, accessibility and the needs of our community, the team narrowed the list to two:
Coenzyme Q10 (CoQ10), a widely available supplement that supports how cells make energy
Cromolyn, a long-established medication most often used for allergies and asthma
Why an observational study. Neither drug is approved to treat BBSOAS, and a lab result in fruit flies does not prove a drug will help people. An observational study lets us collect real-world information from families quickly and safely. The Foundation does not prescribe, supply or recommend either drug. Families make that decision with their child's physician, and we record what happens.
How the study works
Join the NR2F1 Patient Registry. All study data is collected through the registry on the Matrix platform.
Talk with your doctor. Review CoQ10 and cromolyn with your child's physician and decide together whether to try one.
Choose one drug. Families who take part pick either CoQ10 or cromolyn. Every participant is on one of the two drugs; there is no placebo or untreated group.
Complete a baseline survey before starting, so we have a clear picture of symptoms beforehand.
Complete follow-up surveys as prompted to report changes in areas such as sleep, behavior, seizures, communication and daily function.
Caregivers complete surveys on behalf of their child. Adults with BBSOAS who can answer for themselves may complete the surveys directly.
Who can take part
People with a confirmed NR2F1 variant / BBSOAS diagnosis, with a genetic report uploaded to the registry
Under the care of a physician who agrees to oversee use of the chosen drug
What happens with the results
Findings will be shared with the BBSOAS community and may help decide whether either drug should move into a formal clinical trial. Individual data is kept confidential and only shared in combined, de-identified form.
Get ready to participate
The Patient Registry is the door into the study. Getting your registry profile complete now means you're ready the day enrollment opens.
Register or log in to the NR2F1 Patient Registry (Matrix platform). Tip: register yourself as the caregiver first, then add your child as the patient.
Complete every survey in your dashboard. New surveys may appear based on your answers.
Upload your child's genetic report. This is essential for research accuracy.
Already registered? Log in and retake your annual surveys.
Questions or need a password reset?
Email patientregistry@nr2f1.org
Watch Dr. Chow explain the study
Important: The NR2F1 Foundation does not provide medical advice. Please do not start, stop or change any medication or supplement without talking to your child's physician.
Frequently Asked Questions (FAQs)
Is this a clinical trial?
No. In a clinical trial, researchers assign a treatment and often compare it with a placebo. In this observational study, families and their doctors decide on treatment, and we collect information about how participants do.
Will the Foundation give us the drug or a prescription?
No. CoQ10 is sold over the counter, and cromolyn requires a prescription from your physician.
Can my child take both drugs?
Participants choose one drug for the study, so we can tell which drug is linked to any changes.
Can my child stay on their current medications?
Yes, in most cases. Please review all current medications with your physician before starting a new one, and record them in your registry surveys.
What if we stop the drug or notice side effects?
You can stop at any time; talk to your doctor first. Please tell us in your next survey, since that information is just as important to the research.
Do we have to join to stay in the registry?
No. The study is voluntary, and registry participation continues whether or not you join.