The purpose of this study is twofold: 1) to monitor patients with polyostotic fibrous dysplasia to determine the natural history of the disease (how it progresses over time), and 2) to screen patients for participation in one of NIH's treatment studies for this disease. In polyostotic fibrous dysplasia, areas of normal bone are replaced with a fibrous growth similar to a scar. Patients with McCune-Albright syndrome have other abnormalities as well, including abnormal skin pigmentation and precocious (early) puberty. Currently, there is no effective treatment for polyostotic fibrous dysplasia and the course of the disease in a given patient cannot be predicted-it may get worse, remain stable or possibly improve.

Patients of any age with known or probable polyostotic fibrous dysplasia may be eligible for this study. After the initial screening evaluation, patients may be offered participation in a treatment study or may be invited to remain in this study and return for yearly evaluations with possible referral to a study at a later time. Not all patients in the study will undergo the same tests; the procedures will vary, depending on the patient's age and medical condition. They may include the following:

- Blood and urine tests.

- Pregnancy test for women of childbearing potential.

- Hearing, eye and dental examinations, including dental X-rays and photographs, if needed.

- Functional evaluation, including measurements of strength, gait, range of motion and ability to perform activities of daily living.

- Pain evaluation, using written questionnaires or interview, depending on the patient's age.

- Bone imaging studies to evaluate bone density, bone lesions and severity of disease over time. These tests may include magnetic resonance imaging (MRI), nuclear medicine bone scans, X-rays, bone densitometry, coned-down (magnified) X-rays, computed tomography (CT) scan, bone age study (X-ray of the hand and wrist).

- Photography to document and track signs of the disease. (No photographs will be published in medical journals or elsewhere without the patient's permission.)

- Bone biopsy, done under local anesthetic and sedative (general anesthetic for small children). A sample of bone tissue is withdrawn through a needle inserted into a bone.

- Skin biopsy, done under local anesthetic. A small sample of skin tissue (about 1/8 inch in diameter) is removed at the time of the bone biopsy.

- Ovarian function evaluation in women, including measurements of hormones in urine and saliva, and transvaginal ultrasound.

- DNA (genetic) studies and possibly other research on polyostotic fibrous dysplasia, using cell lines grown from white blood cells and tissue obtained from the skin and bone biopsies.

- Additional tests may be recommended to evaluate particular problems detected in individual patients.

Condition
Polyostotic Fibrous Dysplasia

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 identify those patients and lesions that may be appropriate for either experimental medical or surgical treatment as well as to define the natural history of the disease with or without treatment.

Genders Eligible for Study:  Both

Criteria

INCLUSION CRITERIA
Any patient with a likelihood of having PFD based on information from a referring physician or surgeon will be eligible for consideration for inclusion in the study. The diagnosis will be based on typical findings on bone biopsy.
Patients may be of any age.
EXCLUSION CRITERIA
Patient, child or parents unwilling to fully cooperate with the evaluation and give informed consent.
Significant comorbidities such as uncontrolled heart failure or diabetes mellitus, renal failure, liver failure, or decompensated psychiatric conditions.
Pregnancy is an absolute contraindication to radiation exposure from x-rays.

Maryland
      National Institute of Dental And Craniofacial Research (NIDCR), 9000 Rockville Pike,  Bethesda,  Maryland,  20892,  United States; Recruiting

Study ID Numbers:  980145; 98-D-0145
Record last reviewed:  July 7, 2004
Last Updated:  July 7, 2004
Record first received:  November 3, 1999
ClinicalTrials.gov Identifier:  NCT00001727
Health Authority: United States: Federal Government
ClinicalTrials.gov processed this record on 2004-11-08