The FD/MAS patient registry launched in October of 2016 and has quickly become one of the largest studies of fibrous dysplasia and McCune-Albright syndrome (FD/MAS) patients worldwide. After a full year of operation, nearly 600 participants had registered for the portal and provided contact preferences for biospecimen contribution and clinical trial recruitment efforts. Many participants also went on to complete one or more surveys, and over 90,000 data points have been collected from their collective efforts.
The registry is a powerful tool that can help patients advance research by gathering their medical histories and experiences in a single dataset that’s been designed to be scientifically rigorous. This new research resource has already attracted notable interest. Two prominent scientists have requested application instructions for accessing registry data, and two researchers are developing a proposal based on patient surveys to compare clinical effectiveness of treatment options. At a recent international scientific meeting, registry data was used to settle a lively debate in real-time. Researchers debated patient interest in contributing to a particular kind of research study, and a study coordinator was able to quickly and objectively demonstrate that the patient community was very interested. Therapeutic developers have also responded positively to the news that the registry continues to show strong enrollment.
Most importantly, the registry serves as a way for the FD/MAS community to become more informed themselves. Once a patient, or parent of a patient who is a minor, completes a survey, they are able to see the aggregate data from other respondents and see how their experience compares. At this year’s Patient and Family Conference, Dr. Alison Boyce of the NIH shared some initial analysis of the Pain Management survey and the treatments that respondents had tried. In order to make more meaningful, scientific conclusions, researchers will need more patients to complete all of their registry surveys, and we encourage participants to continue filling out their information. The promise of immediate learning and long-term research possibilities make the FD/MAS Patient Registry one of the most powerful tools the community has for advancing towards a better future, answers to their questions, and a cure.