Registry Data Fuels New Research

2018 is the first year that the FD/MAS Patient Registry accepted applications from researchers to use the Registry for research projects, and the immediate interest has exceeded all expectations. Thanks to the 800+ patients and caregivers who have registered in the study and contributed over 100,000 data points, researchers are using the FD/MAS Patient Registry to design new studies, to recruit participants for new studies, to apply for federal grants, and, of course, to analyze data. Learn more about six research projects that requested support from the FD/MAS Patient Registry program in 2018:

2018 Researcher Applications for FD/MAS Patient Registry Support Included:

• Craniofacial Surgery and Patient Satisfaction: Amanda Konradi, PhD of Loyola University in Maryland and Andrea Burke, DMD, MD of University of Washington have both been involved as advisors of FDF for many years. This year, their volunteer work and professional work coincided as they joined together to study craniofacial FD, surgical history, and patient self-perception. Konradi and Burke used de-identified data from the FD/MAS Patient Registry to apply for a research grant to the Oral and Maxillofacial Surgery Foundation and also applied to study de-identified data outright. The overall goal of this research project is to assist fibrous dysplasia patients with craniofacial disease in making informed-decisions about operative treatment, while improving standards of care.
• Comparing Surgical Techniques for the Best Outcomes: Khalid El Ghoul, BSc of the Eramus Medical Center reached out to the FDF interested in both aggregate and patient level data as he studies the success of different surgical techniques and the factors associated with positive outcomes. Operative treatment may be pursued in treating craniofacial FD, but there is a high rate of recurrence, and scientists do not fully understand the factors that may predict poor outcomes. El Ghoul would like to use data from the FD/MAS Patient Registry and other data sources to look at endocrine abnormalities, diagnostic history, and where in the skeleton patients have FD lesions as part of his study.
• Resilience and Physical Deformity: Clinical Psychology PhD candidate Bridget Clancy is completing her dissertation at University of Hartford. She is studying resilience in young adults with a physical disability resulting from a growth disorder. Clancy worked with FDF Study Coordinators to recruit participants to her study via social media, newsletter outreach, and targeted emails to Registry participants that fit her study’s criteria.
• Pain and Mental Health: Drs. Jaymin Upadhyay & David Borsook of Boston Children’s Hospital, Harvard Medical School are collaborating with long time FDF adviser Dr. Alison Boyce of the NIH to study pain and mental health in FD/MAS patients. They worked closely with FDF to organize a patient focus group including registry participants to learn more about pain experiences in FD/MAS, as well as inform the study design of future investigations.
• Building a Consortium of Researchers for a Cure: Led by Dr. Edward Hsiao of University of California-San Francisco, an impressive group of institutions submitted a federal funding proposal to develop a national network for clinical research for diseases associated with cAMP (Cyclic adenosine monophosphate) dysfunction. The proposal leveraged the registry in multiple ways. Proposed collaborators included the University of California-San Francisco, the National Institutes of Health, the Massachusetts General Hospital, and the University of California–Los Angeles, FDF, and other patient advocacy groups for diseases affected by cAMP dysfunction.
• Diving into Craniofacial Surgery: Drs. Eric Liao, MD, PhD and Leonard Kaban, DMD, MD, FACS of Harvard Medical School requested aggregate data from the FD/MAS Patient Registry to support a grant application to study a potential synergy between craniofacial surgery and denosumab, a drug that is already approved for conditions such as osteoporosis and bone cancer. The project would examine pain and bone density outcomes for FD/MAS patients who take targeted applications of denosumab. Additionally, it could help these researchers form a network for future research projects related to craniofacial FD, and a framework for even more research projects in years to come.

The immediate and widespread researcher interest in the FD/MAS Patient Registry is indicative of its tremendous value for FD/MAS science. “Collecting patient level data can occupy a significant portion of a researcher’s already tight budget,” explained Dr. David Burr, Chair of the FDF Scientific Advisory Council, “and the information obtained can be limited by regulations surrounding the need to protect patient identity. The fact that FDF connects researchers with deidentified patient data at no cost is a tremendous gain for those in the rare bone and metabolic disease field.”

“What we’ve built as a community is a powerful tool for patients to contribute to science and for researchers to make gains in our understanding of FD/MAS,” said Deanna Portero, FDF’s Executive Director. “Funding research will always be an important aspect of our effort to cure FD/MAS, but when we directly give researchers grants of data, help connect researchers with study participants, or support researchers in their efforts to collaborate and seek outside funding, we compound our opportunities for real scientific gains. Not only is providing data to researchers more economically efficient than funding different researchers to collect the same core data over and over again, the existence of organized, already collected data makes it easier for FD/MAS researchers to secure funding from other sources.”

The FD/MAS Patient Registry recently entered its longitudinal phase, where the database will gather updates from enrolled participants in order to understand the disease over time. As the FD/MAS Patient Registry grows in both participant numbers and data contributed, it will become more and more valuable as a resource for research.