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

Study Summary

Polyostotic fibrous dysplasia (PFD) is a sporadic disorder which affects multiple sites in the skeleton. The bone at these sites is rapidly resorbed and replaced by abnormal fibrous tissue or mechanically abnormal bone. PFD may occur alone or as part of the McCune-Albright Syndrome (MAS), a syndrome originally defined by the triad of PFD, cafe-au-lait pigmentation of the skin, and precocious puberty. The bony lesions are frequently disfiguring, disabling and painful, and depending on the location of the lesion, can cause significant morbidity. Lesions in weight-bearing bones can lead to disabling fractures, while lesions in the skull can lead to compression of vital structures such as cranial nerves. The natural history of this disease is poorly described and there are no clearly defined systemic therapies for the bone disease. This is a data collection and specimen acquisition protocol. The purpose of the study is to define the natural history of the disease by following PFD/MAS subjects over time and by using in vitro experimentation with samples/tissue from subjects with the disease. Study Objectives 1. Primary Objective Define the natural history of disease by gaining clinical and basic information about PFD/MAS by following subjects clinically and using in vitro experimentation with tissue from subjects with the disease. 2. Secondary Objective Refer eligible subjects for enrollment into other appropriate research protocols, if any are currently active. Study Population The study population will include: 1. Subjects with known or suspected Polyostotic Fibrous Dysplasia (PFD) or in combination with McCune-Albright Syndrome (MAS) 2. Subjects who meet eligibility criteria will be accepted regardless of gender, race, or ethnicity Design This study is an observational/natural history study of PFD/MAS. Outcome Measures Primary 1. Successfully enroll subjects with PFD or MAS for the collection, evaluation and analysis of data obtained from clinical visi

Primary Outcome

Successfully enroll, evaluate, and manage subjects with Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome.

Conditions Studied

Study Locations (1)