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:

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 A sample of bone tissue is withdrawn through a needle inserted into a bone.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.

Sponsoring Institute:

National Institute of Dental And Craniofacial Research (NIDCR)

Recruitment Detail

Type: Active Accrual Of New Subjects

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility 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.

Special Instructions: Currently Not Provided

Keywords:

Bone Marrow Stromal Cells

Bone Turnover

Recruitment Keywords:

Polyostotic Fibrous Dysplasia

McCune-Albright Syndrome

Conditions:

Polyostotic Fibrous Dysplasia

Investigational Drug(s):

None

Investigational Device(s):

None

Contacts:

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

Citations:

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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Warren Grant Magnuson Clinical Center (CC)
National Institutes of Health (NIH)
Bethesda, Maryland 20892. Last update: 10/16/2004