Screening and Natural History of Patients With Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome - Full Text View

Sponsored by:	National Institute of Dental and Craniofacial Research (NIDCR)
Information provided by:	National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:	NCT00001727

Purpose

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

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

Resource links provided by NLM:

Genetics Home Reference related topics: McCune-Albright syndrome Melnick-Needles syndrome

MedlinePlus related topics: X-Rays

U.S. FDA Resources

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment:	200
Study Start Date:	August 1998

Detailed Description:

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.

Eligibility

Ages Eligible for Study:	1 Year and older
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

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.

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00001727

Contacts

Contact: Patient Recruitment and Public Liaison Office	(800) 411-1222	prpl@mail.cc.nih.gov
Contact: TTY	1-866-411-1010

Locations

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike	Recruiting
Bethesda, Maryland, United States, 20892

Sponsors and Collaborators

National Institute of Dental and Craniofacial Research (NIDCR)

More Information

Additional Information:

NIH Clinical Center Detailed Web Page This link exits the ClinicalTrials.gov site

Publications:

Shenker A, Weinstein LS, Moran A, Pescovitz OH, Charest NJ, Boney CM, Van Wyk JJ, Merino MJ, Feuillan PP, Spiegel AM. Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein GS. J Pediatr. 1993 Oct;123(4):509-18.

Riminucci M, Fisher LW, Shenker A, Spiegel AM, Bianco P, Gehron Robey P. Fibrous dysplasia of bone in the McCune-Albright syndrome: abnormalities in bone formation. Am J Pathol. 1997 Dec;151(6):1587-600.

Mastorakos G, Mitsiades NS, Doufas AG, Koutras DA. Hyperthyroidism in McCune-Albright syndrome with a review of thyroid abnormalities sixty years after the first report. Thyroid. 1997 Jun;7(3):433-9.

Study ID Numbers:	980145, 98-D-0145
Study First Received:	November 3, 1999
Last Updated:	August 19, 2008
ClinicalTrials.gov Identifier:	NCT00001727 History of Changes
Health Authority:	United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):

Bone Marrow Stromal Cells
Bone Turnover
Polyostotic Fibrous Dysplasia
McCune-Albright Syndrome

Study placed in the following topic categories:

McCune Albright Syndrome
Musculoskeletal Diseases
Bone Diseases, Developmental
Osteochondrodysplasias

Fibrous Dysplasia of Bone
Fibrous Dysplasia
Fibrous Dysplasia, Polyostotic
Bone Diseases

Additional relevant MeSH terms:

Pathologic Processes
Disease
Musculoskeletal Diseases
Syndrome
Bone Diseases, Developmental

Osteochondrodysplasias
Fibrous Dysplasia of Bone
Fibrous Dysplasia, Polyostotic
Bone Diseases

ClinicalTrials.gov processed this record on July 02, 2009