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 small 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 stories” while facilitating data collection leading to the appropriate hypotheses/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. The Tier I portion of the project will focus on building the community, which includes 1) forming new and strengthening existing research partnerships, and 2) creating appropriate communication and outreach plans to support collaboration among the advocacy and research organizations as well as patients, researchers, and clinicians. In building the appropriate online tools, partnerships, and governance structures, we will take the first steps toward improving patient-centered outcomes research for this rare disorder.

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VIDEO (below): Creating an Online Network for Patients with Rare Bone Disease
This Pipeline to Proposal award will give patients with fibrous dysplasia a platform to share their stories, so that researchers and clinicians can better understand this rare chronic condition.