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

National Institute of Dental and Craniofacial Research (NIDCR)
30 Apr, 2019 ,

The natural history of Polyostotic fibrous dysplasia (PFD) is poorly described and there are no clearly-defined systemic therapies for the bone disease. The purpose of this study is to define the natural history of the disease with or without treatment.

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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 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. The purpose of this study is to define the natural history of the disease with or without treatment.

Study Type  :Observational

Estimated Enrollment  :500 participants

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

Study Start Date  :August 25, 1998

Ages Eligible for Study:  up to 105 Years   (Child, Adult, Older Adult)

Sexes Eligible for Study:  All

Accepts Healthy Volunteers:  No

Criteria

  • INCLUSION CRITERIA
  • Any patient with a likelihood of having PFD or MAS, based on information from a referring physician or surgeon or provided by the patient or guardian, will be eligible for consideration for inclusion in the study. The diagnosis will be based on typical findings on bone biopsy, or on clinical grounds.

EXCLUSION CRITERIA

  • Patient, child or parents unwilling to fully cooperate with the evaluation
  • Patient or guardian of minor unable to provide informed consent.