Registries — Reports shared at the 2023 FD/MAS Community Conference and ICFDMAS meeting
Dr. Kassim Javaid discusses the Rudy study, a registry for rare and undiagnosed diseases in the UK, focusing on the challenges of funding and the need for a unified registry. He emphasizes the importance of participant engagement, dynamic consent, and collaboration with patient groups. The study uses forms tailored to specific disorders and provides feedback to participants. The speaker highlights the benefits of visualizing data and sharing results with participants. The Rudy study has contributed to understanding pain types in fibrous dysplasia and has influenced national guidelines.
Next, Dr. Andrea Burke talks about the FD/MAS patient registry run by the FD/MAS Alliance. The registry aims to collect data on the natural history of the disease, treatments, and patient experiences. Participants complete surveys, and there is a focus on addressing patient needs and priorities. The registry, launched in 2016, has over 1,000 participants and has led to collaborations, publications, and interest in clinical trials.
Lastly, Dr. Appelman-Dijkstra introduces the European Registry for Rare Bone and Mineral Conditions, which includes a specific module for fibrous dysplasia. The registry, part of the European Reference Network, collects core data elements and has a patient-facing component. The core registry moved from the UK to the Netherlands, ensuring its continuation. The registry incorporates validated questionnaires, including the Brief Pain Inventory and EQ-5D, in multiple languages. It has a data access committee and patient representation to oversee research requests.
Overall, these registries play a crucial role in advancing research, understanding disease characteristics, and improving clinical care for fibrous dysplasia.
The FD/MAS Alliance Community Conference combined patient-centered science and real-world strategies for patients and families living with fibrous dysplasia, McCune-Albright syndrome (FD/MAS).
The FD/MAS Alliance (formerly Fibrous Dysplasia Foundation) is a community-driven 501c3 nonprofit that fosters the development of evidence-based treatments for Fibrous Dysplasia and McCune-Albright syndrome (FD/MAS). We advance research, provide education and channel the voices of individuals and caregivers with FD/MAS. To support our work visit www.fdmasalliance.org/donate