Protocol Number: 98-D-0145

Title:

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

Number:

98-D-0145

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 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.

Sponsoring Institute:

National Institute of Dental And Craniofacial Research (NIDCR)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility 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 and give informed consent.

Special Instructions:

Currently Not Provided

Keywords:

Bone Marrow Stromal Cells

Bone Turnover

Recruitment Keyword(s):

Polyostotic Fibrous Dysplasia

McCune-Albright Syndrome

Condition(s):

Polyostotic Fibrous Dysplasia

Investigational Drug(s):

None

Investigational Device(s):

None

Intervention(s):

None

Supporting Site:

National Institute of Dental and Craniofacial Research

Contact(s):

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citation(s):

Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein GS

Fibrous dysplasia on bone in the McCune-Albright Syndrome: abnormalities in bone formation

Hyperthyroidism in McCune-Albright syndrome with a review of thyroid abnormalities sixty years after the first report

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
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