Little is known about the rare disease fibrous dysplasia and related disorders associated with excess bone growth. For patients, severe pain and deformity can occur; and, when the affected area is in the craniofacial region, they can experience migraines, blindness, and difficulty eating along with the painful social stigma of “looking different.” Currently, there is no cure for this condition and treatments are typically directed at managing symptoms such as severe pain and deformity. As patients with rare disorders are few in number and widely scattered geographically, online registries have become the gold standard for accelerating progress in rare disease research. When registries are patient driven, they can be powerful tools, enabling participants to tell their story while facilitating data collection, leading to the appropriate hypothesis and clinical effectiveness research questions that are most meaningful to patients and to the healthcare community serving them. These online networks can facilitate collaboration among investigators, clinicians, patients, and advocates. During Tier I of the project, the community generated a list of CER ideas to pursue. Tier II activities will focus on collecting widespread feedback from patients via the registry and will foster collaboration among all stakeholders to refine the existing list of CER ideas into a single research question.
^The original project lead for this award was Lisa Heral, RN, CCRC.