The NR2F1 Foundation has opened its BBSOAS patient registry for individuals and/or their caregivers who have received a confirmed diagnosis of BBSOAS and have a genetic report. Powered by Matrix, the registry is currently available in English, Italian, French, Spanish, and German. One purpose of the registry is to get an accurate count of how many people throughout the world have been diagnosed with BBSOAS and where they are located.
If you’re not familiar with a patient registry, it is a system designed to collect health information and data on patients who have a particular disease or condition for one or more defined purposes. Typically, a patient registry is used for research and may be used by one or more institutions, but it may also be used for developing new therapies, monitoring the quality of health care, determining best practices for treatments, and monitoring health outcomes. A patient-powered or patient-driven registry is when the patients or their caretakers manage and control the collection of the data, determine the agenda for how it is to be used, and decide how to disseminate the data.
Because the BBSOAS registry is patient-driven, the NR2F1 Foundation will be sending standardized surveys throughout the year to all registrants to collect information. The data that will be collected will help researchers and families learn more about BBSOAS and show how the disease progresses over time. The results will help them understand how the disorder affects someone over a lifetime.
The Matrix platform will be very helpful for registrants as a tool for health monitoring, and for parents to more easily manage the daily medical care of their child. It has a medication tracker, and it will track symptoms, appointments, sleep patterns, seizure activity, and much more. There is a journal component for keeping track of issues or physical changes. It can even generate pdf forms to share with new babysitters, doctors, therapists, or teachers.
Participants will be able to share their data in the Matrix with anyone they want including their doctors, teachers, and other caregivers. Researchers, the BBSOAS community, and those working in the field will only be able to access the data after it has been de-identified, or is anonymous.
More information is available on the NR2F1 Foundation website about BBSOAS and its symptoms, along with a video series of symptoms. A link to sign up for the registry is at the top of the home page.
