Screening and Natural History of Patients With Polyostotic Fibrous Dysplasia and the McCune-Albright Syndrome

What this Trial Is About

Polyostotic fibrous dysplasia (PFD) is a rare disorder affecting multiple skeletal sites where normal bone is replaced by abnormal fibrous tissue or mechanically weak bone. It can occur alone or with McCune-Albright Syndrome (MAS), which includes skin pigmentation and early puberty. The bone lesions can cause pain, deformity, fractures, and nerve compression. The natural progression of PFD/MAS is not well understood, and there are no established systemic treatments for the bone disease. This observational study aims to define the natural history of PFD/MAS by following affected individuals over time and studying tissue samples in the lab. Participants in this study include those with known or suspected PFD or MAS. Researchers will collect clinical data during visits and obtain tissue samples when available, including waste tissue from surgeries. Lab analyses will focus on understanding the bone biology of affected cells, identifying mutation patterns, studying bone formation processes, and exploring the disease's endocrine aspects. The goal is to better predict lesion behavior and develop future research directions related to PFD and MAS. During the study, participants will have clinical evaluations and may provide tissue samples for research. Data collected will help characterize lesion growth, stability, and progression, as well as endocrinopathies associated with MAS. The primary outcome is to gather clinical and laboratory information to define disease natural history. Eligible participants may also be referred to other research protocols. The study is ongoing and open to individuals aged 1 day and older, with no gender or racial restrictions.

Screening and Natural History of Patients With Polyostotic Fibrous Dysplasia and the McCune-Albright Syndrome