We believe there is power in numbers. This is why every new diagnosis is important to us. By registering BBSOAS patients, our community decides what's important to study and learn about BBSOAS.
There are three actions for newly diagnosed patients :
1. Register with us
We want to keep track of the number of diagnosed cases around the world, so that we can share this with you and our community of scientists and researchers. If you are a newly diagnosed family, please also share your location. By registering with us, you will also receive communications from the NR2F1 Foundation.
2. Register with the NR2F1 Patient Registry
The Patient Registry collects information through surveys on how a disease affects a person over a lifetime to better understand diseases, especially rare ones. The data collected from the surveys will help researchers and families learn more about BBSOAS.
The Patient Registry will show how the disease progresses over time. This is why it’s extremely important to complete all the surveys listed in your account. Every year in June, we ask families to go back into the Patient Registry to complete annual surveys.
Having our BBSOAS population registered in Patient Registry also means as an organization we are ‘research ready’ for clinical trials or pharmaceutical development.
Get started in 4 simple steps:
Create a Patient Registry account in Matrix
Upload the genetic report to confirm diagnosis
Fill out all the surveys listed in your account
Turn on survey notifications
Already registered?
Log inWho can I contact about the Patient Registry for more help or answers?
Email patientregistry@nr2f1.org and we can help or offer a Zoom meeting to help you get registered.
Who can take part?
Parents or carers of a confirmed BBSOAS patient or BBSOAS patients themselves. By confirmed we mean with a genetic report showing the diagnosis.
Who will have access to the data?
Only a few study administrators have access to patient identifying data. The patient or carer owns their own data. They can share it with whoever they want, including doctors, teachers, other carers, etc. if useful.
Anonymous data is accessed by:
The NR2F1 Foundation - limited to whose working on Patient Registry
COMBINEDBrain - our scientific partner
Subject to approval by the NR2F1 Foundation - researchers and industry who are working on BBSOAS studies
Matrix - the company behind the Patient Registry tool
Other than filling out surveys, how else can I use Patient Registry?
Patient Registry can also be used as a personal health monitoring tool. It has features that make managing daily medical care easier.
What languages is Matrix and the surveys available in?
Matrix is available in English, Spanish, Italian, French, German, Portuguese and Korean. Surveys are available in English, Spanish, Italian, French, German, Portuguese, Korean and Hebrew.
Who can take part?
Parents or carers of a confirmed BBSOAS patient or BBSOAS patients themselves. By confirmed we mean with a genetic report showing the diagnosis.
3. Register for a Clinical Research ID
The Clinical Research ID (CRID) is a free patient-generated service specifically for use in clinical research. The parent or carer of the patient or the patient themselves decides who to share it with. With a CRID, you can gain visibility into the research studies you’re enrolled in.
Anyone around the world can register for a CRID.
Register now