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

Purpose

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.

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 mucopolysaccharidosis type IV

U.S. FDA Resources

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

Estimated Enrollment:	300
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 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 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.

Contacts and Locations

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

Contacts

Contact: Michael T Collins, M.D.

(301) 496-4913

mc247k@nih.gov

Locations

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike	Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL) 800-411-1222 ext TTY8664111010 prpl@mail.cc.nih.gov

Sponsors and Collaborators

National Institute of Dental and Craniofacial Research (NIDCR)

Investigators

Principal Investigator:

Michael T Collins, M.D.

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.

Additional publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

Brown RJ, Kelly MH, Collins MT. Cushing syndrome in the McCune-Albright syndrome. J Clin Endocrinol Metab. 2010 Apr;95(4):1508-15. Epub 2010 Feb 15.

ClinicalTrials.gov Identifier:	NCT00001727 History of Changes
Other Study ID Numbers:	980145, 98-D-0145
Study First Received:	November 3, 1999
Last Updated:	May 1, 2013
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

Additional relevant MeSH terms:

Fibrosis
Fibrous Dysplasia, Polyostotic
Fibrous Dysplasia of Bone
Hyperplasia
Pathologic Processes

Osteochondrodysplasias
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases

ClinicalTrials.gov processed this record on May 19, 2013